Raras
Buscar doenças, sintomas, genes...
Picnodisostose
ORPHA:763CID-10 · Q78.8CID-11 · 5C56.YOMIM 265800DOENÇA RARA

Picnodisostose é uma doença genética rara caracterizada por baixa estatura, ossos mais densos que o normal e ossos frágeis (que quebram facilmente). Outras características podem incluir: pontas dos dedos subdesenvolvidas com unhas ausentes ou pequenas; um osso da saboneteira (clavícula) anormal; traços faciais peculiares, como cabeça grande com rosto e queixo pequenos, ossos da face que não se desenvolveram completamente, testa alta e problemas nos dentes. A picnodisostose é uma condição genética autossômica recessiva, o que significa que a pessoa só desenvolve a doença se herdar uma cópia do gene alterado de cada um dos pais (que geralmente não apresentam a doença). É causada por alterações (mutações) no gene que produz a enzima catepsina K (CTSK), localizado no cromossomo 1q21. O diagnóstico da picnodisostose se baseia nas características físicas do paciente e nos resultados de exames de raio-X. Testes genéticos moleculares estão disponíveis para confirmação. O tratamento deve ser individualizado, focando nos sintomas de cada paciente, e pode incluir: acompanhamento ortopédico (para os ossos e articulações), tratamento de fraturas (quebras dos ossos), cuidados dentários apropriados e cirurgias na cabeça e no rosto (craniofaciais).

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Picnodisostose é uma doença genética rara caracterizada por baixa estatura, ossos mais densos que o normal e ossos frágeis (que quebram facilmente). Outras características podem incluir: pontas dos dedos subdesenvolvidas com unhas ausentes ou pequenas; um osso da saboneteira (clavícula) anormal; traços faciais peculiares, como cabeça grande com rosto e queixo pequenos, ossos da face que não se desenvolveram completamente, testa alta e problemas nos dentes. A picnodisostose é uma condição genética autossômica recessiva, o que significa que a pessoa só desenvolve a doença se herdar uma cópia do gene alterado de cada um dos pais (que geralmente não apresentam a doença). É causada por alterações (mutações) no gene que produz a enzima catepsina K (CTSK), localizado no cromossomo 1q21. O diagnóstico da picnodisostose se baseia nas características físicas do paciente e nos resultados de exames de raio-X. Testes genéticos moleculares estão disponíveis para confirmação. O tratamento deve ser individualizado, focando nos sintomas de cada paciente, e pode incluir: acompanhamento ortopédico (para os ossos e articulações), tratamento de fraturas (quebras dos ossos), cuidados dentários apropriados e cirurgias na cabeça e no rosto (craniofaciais).

Publicações científicas
352 artigos
Último publicado: 2026 Jun

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.13
Worldwide
Início
Adolescent
+ adult, childhood, infancy
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q78.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
18 sintomas
😀
Face
8 sintomas
🦷
Dentes
4 sintomas
📏
Crescimento
4 sintomas
🧠
Neurológico
3 sintomas
👁️
Olhos
2 sintomas

+ 29 sintomas em outras categorias

Características mais comuns

90%prev.
Defeitos osteolíticos das falanges distais da mão
Muito frequente (99-80%)
90%prev.
Baixa estatura desproporcional de membros curtos
Muito frequente (99-80%)
90%prev.
Aumento da densidade mineral óssea
Muito frequente (99-80%)
90%prev.
Pneumatização atrasada do processo mastoide
Muito frequente (99-80%)
90%prev.
Fontanela anterior aberta persistente
Muito frequente (99-80%)
90%prev.
Fator de crescimento semelhante à insulina 1 sérico diminuído
Muito frequente (99-80%)
75sintomas
Muito frequente (9)
Frequente (20)
Ocasional (24)
Muito raro (13)
Sem dados (9)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 75 características clínicas mais associadas, ordenadas por frequência.

Defeitos osteolíticos das falanges distais da mãoOsteolytic defects of the distal phalanges of the hand
Muito frequente (99-80%)90%
Baixa estatura desproporcional de membros curtosDisproportionate short-limb short stature
Muito frequente (99-80%)90%
Aumento da densidade mineral ósseaIncreased bone mineral density
Muito frequente (99-80%)90%
Pneumatização atrasada do processo mastoideDelayed pneumatization of the mastoid process
Muito frequente (99-80%)90%
Fontanela anterior aberta persistentePersistent open anterior fontanelle
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico352PubMed
Últimos 10 anos131publicações
Pico201517 papers
Linha do tempo
2026Hoje · 2026📈 2015Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.

CTSKCathepsin KDisease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

Thiol protease involved in osteoclastic bone resorption and may participate partially in the disorder of bone remodeling. Displays potent endoprotease activity against fibrinogen at acid pH. May play an important role in extracellular matrix degradation. Involved in the release of thyroid hormone thyroxine (T4) by limited proteolysis of TG/thyroglobulin in the thyroid follicle lumen (PubMed:11082042)

LOCALIZAÇÃO

LysosomeSecretedApical cell membrane

VIAS BIOLÓGICAS (2)
RUNX1 regulates transcription of genes involved in differentiation of keratinocytesMHC class II antigen presentation
MECANISMO DE DOENÇA

Pycnodysostosis

A rare autosomal recessive bone disorder characterized by deformity of the skull, maxilla and phalanges, osteosclerosis, and fragility of bone.

EXPRESSÃO TECIDUAL(Ubíquo)
Cervix Ectocervix
669.9 TPM
Cervix Endocervix
642.5 TPM
Fibroblastos
347.3 TPM
Tecido adiposo
285.8 TPM
Útero
282.5 TPM
OUTRAS DOENÇAS (1)
pycnodysostosis
HGNC:2536UniProt:P43235

Variantes genéticas (ClinVar)

154 variantes patogênicas registradas no ClinVar.

🧬 CTSK: NM_000396.4(CTSK):c.372del (p.Gly125fs) ()
🧬 CTSK: GRCh37/hg19 1q21.1-44(chr1:143932350-249224684)x3 ()
🧬 CTSK: GRCh37/hg19 1q21.1-21.3(chr1:145398178-151386947)x3 ()
🧬 CTSK: GRCh37/hg19 1q21.2-21.3(chr1:150161903-151243214)x1 ()
🧬 CTSK: NM_000396.4(CTSK):c.401G>T (p.Gly134Val) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Picnodisostose

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
126 papers (10 anos)
#1

Management of pregnancy in a woman with a new diagnosis of pycnodysostosis: A case report.

Case reports in women's health2026 Jun

Pycnodysostosis is a rare autosomal recessive skeletal dysplasia resulting in short stature, characteristic facial features and long-bone fractures. Given its rarity, there is minimal information in the medical literature on management of pregnancies in women affected by pycnodysostosis. This report describes the antenatal, intrapartum and postnatal care of a 28-year-old nulliparous woman with a new diagnosis of pycnodysostosis during pregnancy. Throughout her care, involvement was sought from the moving and handling team, anaesthetics, geneticists and obstetricians to allow anticipation of potential complications. Mode of delivery was discussed, with a joint decision to opt for an elective caesarean section under regional anaesthesia at 37 weeks of gestation. In the postnatal period, the patient's recovery was complicated by a long-bone fracture, a recognised and important risk of pycnodysostosis. The report reflects on steps taken to mitigate fracture risk. However, the fall precipitating the fracture was the patient's own home, where she had lived for several years, and was therefore unforeseeable. This case highlights the importance both of a multidisciplinary approach and thorough antenatal care planning for women with rare and complex conditions in pregnancy, and of the risk of long-bone fracture in the postnatal period in women with pycnodysostosis. The report aims to increase awareness of this condition and provide an approach for the management of other women with pycnodysostosis.

#2

Spontaneous Fracture of the Atlas in a Patient with Pycnodysostosis and Mandibular Osteomyelitis - A Case Report.

Annals of maxillofacial surgery2025

Mandibular osteomyelitis is a common complication in pycnodysostosis; however, spontaneous atlas fracture has not been previously reported. Persistent mandibular pain, swelling, and purulent discharge following tooth extraction, along with recent cervical discomfort. Left mandibular osteomyelitis and type 3 atlas (C1) fracture in a patient with a prior diagnosis of pycnodysostosis. Cervical immobilisation with a Philadelphia collar for 8 weeks, sequestrectomy under local anaesthesia, irrigation, debridement and targeted antibiotics. Favorable progress with no signs of infection or cervical symptoms after 6 months, along with partial bone healing in the mandible and stabilization of the C1 fracture. In patients with pycnodysostosis, maxillofacial procedures must include prior cervical evaluation. Vertebral fractures may occur without evident trauma and present with minimal symptoms, posing a high clinical risk if undetected.

#3

Pycnodysostosis and obstructive sleep apnea: Observations on 10 cases.

Respiratory medicine case reports2025

Pycnodysostosis is a rare skeletal disorder often associated with craniofacial anomalies that may increase the propensity for obstructive sleep apnea (OSA). This retrospective study aimed to explore the prevalence and treatment of OSA in pediatric patients with Pycnodysostosis. To describe the clinical characteristics, polysomnographic findings, and treatment in 10 children with Pycnodysostosis. Retrospective study conducted at the Sleep Medicine Center of CHU Hassan II, Fès, Morocco of 10 children with Pycnodysostosis diagnosed between 2010 and 2024 and based on clinical and/or genetic criteria who underwent overnight polysomnography. All patients suffered from moderate to severe OSA (apnea-hypopnea index: 5.9-43.8 events/h). Treatment included adenoidectomy, tonsillectomy, and CPAP, the latter leading to near normalization of respiratory patterns and improvement in sleep quality. OSA in Pycnodysostosis imposes a significant impact on quality of life which responds favorably to stepwise interventions aimed at eliminating or mitigating OSA severity. This study highlights the importance of early diagnosis and appropriate treatment to prevent long-term complications, especially involving maxillofacial growth.

#4

Head Trauma in Pycnodysostosis: An Imagiological Challenge.

Cureus2025 Oct

A 10-year-old girl with a known diagnosis of pycnodysostosis presented to the emergency department after a traumatic head injury. Physical examination revealed a fluctuant triangular deformity in the parieto-occipital region, raising suspicion of a skull fracture. Computed tomography (CT) demonstrated heterogeneous bone density with radiated sclerosis of the parietal bones, consistent with her underlying condition, and a partial discontinuity of the lambdoid suture without signs of an acute fracture. A conservative, watchful approach was undertaken with complete recovery. This case highlights the diagnostic challenges posed by pycnodysostosis in differentiating acute trauma from chronic skeletal abnormalities.

#5

When Bones Tell a Story: Diaphyseal Femoral Fracture in a Child With Pycnodysostosis.

Cureus2025 Oct

Pycnodysostosis (PYCD) is a rare genetic disorder marked by generalized bone sclerosis and a high risk of fractures. On average, children with PYCD experience approximately 0.2 fractures per year, often complicated by delayed healing and poor bone remodeling. Surgical treatment of long bone fractures in patients with PYCD is scarcely documented in the literature, and orthopedic surgeons play a crucial role in managing the affected children. In this article, we present the case of an 11-year-old boy diagnosed with PYCD who presented to the pediatric surgery department for the management of a femoral diaphysis fracture, and we discuss the therapeutic difficulties.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC295 artigos no totalmostrando 129

2026

Management of pregnancy in a woman with a new diagnosis of pycnodysostosis: A case report.

Case reports in women's health
2025

Spontaneous Fracture of the Atlas in a Patient with Pycnodysostosis and Mandibular Osteomyelitis - A Case Report.

Annals of maxillofacial surgery
2025

Pycnodysostosis and obstructive sleep apnea: Observations on 10 cases.

Respiratory medicine case reports
2025

Head Trauma in Pycnodysostosis: An Imagiological Challenge.

Cureus
2025

When Bones Tell a Story: Diaphyseal Femoral Fracture in a Child With Pycnodysostosis.

Cureus
2025

From genotype to phenotype: the impact of early management in pycnodysostosis.

Endocrinology, diabetes &amp; metabolism case reports
2025

Healing fragile bones: a case report on hyperbaric oxygen therapy in pycnodysostosis.

Diving and hyperbaric medicine
2025

Oral and maxillofacial manifestations of Pycnodysostosis: a summary of clinical, radiological and cephalometric diagnostic criteria. A systematic review.

Journal of stomatology, oral and maxillofacial surgery
2025

Pycnodysostosis: a case series of eight Saudi patients with cathepsin K gene mutation and a literature review.

Frontiers in endocrinology
2025

Bone quality in pycnodysostosis: micropetrosis, locally distorted osteocyte lacuno-canalicular network, and heterogenous mineralization pattern in an adult female patient with multiple fractures.

JBMR plus
2024

Case Report: A Novel Homozygous Variant of the CTSK Gene in Rare Pycnodysostosis.

International journal of molecular sciences
2024

Pycnodysostosis and severe laryngomalacia complicating general anesthesia: A case report.

Saudi journal of anaesthesia
2024

Pycnodysostosis: Clinical Insights From Two Siblings.

Cureus
2024

Latent metabolic bone disease, skeletal dysplasia and other conditions related to low bone formation among 38 patients with subtrochanteric femoral fractures: a retrospective observational study.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
2024

Clinico-Radiological Perspectives of Pycnodysostosis - A Rare Case Series.

Journal of pharmacy &amp; bioallied sciences
2025

Effects and Safety of Growth Hormone Treatment in Six Children with Pycnodysostosis.

Hormone research in paediatrics
2024

Pathological Fractures in Patients Affected by Pycnodysostosis: A Case Series.

Journal of clinical medicine
2024

Clinical and radiographic characteristics of pycnodysostosis: A systematic review.

Imaging science in dentistry
2024

Pycnodysostosis: Characteristics of teeth, mouth and jaws.

Orthodontics &amp; craniofacial research
2024

Pathological mandibular fracture complicated by osteonecrosis in an adult patient with pycnodysostosis: clinical report and review of the literature.

European journal of medical genetics
2023

Evaluation of Clinical Characteristics and Growth Hormone Response in a Rare Skeletal Dysplasia: Pycnodysostosis.

Cureus
2023

Management of long bone fractures in patients with pycnodysostosis.

BMJ case reports
2023

The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120.

Bone
2023

Osteopetrosis: Gene-based nosology and significance.

Bone
2023

Case report: a giant cell-rich gnathic bone lesion in a child with pycnodysostosis.

Frontiers in oral health
2024

Unravelling the Relacatib activity against the CTSK proteins causing pycnodysostosis: a molecular docking and dynamics approach.

Journal of biomolecular structure &amp; dynamics
2023

Pycnodysostosis: A rare cause of pathological fractures and exuberant clinical manifestations in two sisters.

Joint bone spine
2023

Pycnodysostosis in children and adults.

Bone
2022

CTSK variant implicated in suspected pyknodysostosis in a domestic cat.

JFMS open reports
2022

Cathepsin K in Pathological Conditions and New Therapeutic and Diagnostic Perspectives.

International journal of molecular sciences
2022

A rare case of pycnodysostosis during pregnancy.

Clinical case reports
2022

Surgical treatment of pycnodysostosis associated with pathological tibial fracture : Case report and review of the literature.

Orthopadie (Heidelberg, Germany)
2022

Bilateral Atypical Subtrochanteric Femoral Fractures with Primary and Secondary Bone Healing in Pycnodysostosis.

Indian journal of orthopaedics
2022

Orthopedic Treatment of Pycnodysostosis: A Systematic Review.

Cureus
2022

Pycnodysostosis; A Rare Disease Case Report.

Journal of Ayub Medical College, Abbottabad : JAMC
2022

Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.

Molecular genetics &amp; genomic medicine
2022

Recurrent fractures and an unusual diagnosis: Pycnodysostosis.

Journal of the National Medical Association
2022

Obstructive sleep apnoea in pycnodysostosis: A three-dimensional upper airway analysis.

Orthodontics &amp; craniofacial research
2021

Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians.

Case reports in genetics
2021

Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease.

Genes
2021

Pycnodysostosis- a rare disorder with distinctive craniofacial dysmorphia. A case report.

Journal of oral biology and craniofacial research
2021

Pycnodysostosis: A Growth Hormone Responsive Skeletal Dysplasia.

AACE clinical case reports
2021

Bilateral subtrochanteric femoral fracture due to a very rare disease: Pycnodisostosis.

Revista espanola de cirugia ortopedica y traumatologia (English ed.)
2021

Pycnodysostosis: a case report and literature review concerning oral and maxillofacial complications and their management.

Oral surgery, oral medicine, oral pathology and oral radiology
2023

Challenges in surgical orthopaedic treatment in a rare case of pycnodysostosis: Sometimes you win, sometimes you learn.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association
2021

The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.

American journal of medical genetics. Part A
2021

Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis.

European journal of medical genetics
2020

Pycnodysostosis with Osteomyelitis of Maxilla: Case Report of Radiological Analysis.

Contemporary clinical dentistry
2021

Increased Bone Resorption during Lactation in Pycnodysostosis.

International journal of molecular sciences
2021

Three-dimensional analysis of craniofacial morphology in patients with pycnodysostosis.

Orthodontics &amp; craniofacial research
2021

Osteomyelitis of the jaws in patients with pycnodysostosis: a systematic review.

Brazilian journal of otorhinolaryngology
2021

Clinical and genetic evaluation of Danish patients with pycnodysostosis.

European journal of medical genetics
2021

The syndrome of Toulouse-Lautrec.

Journal of endocrinological investigation
2020

Management of chronic suppurative osteomyelitis in a patient with pycnodysostosis.

General dentistry
2021

Rare Cause of Pathological Fractures: Pycnodysostosis.

Journal of clinical rheumatology : practical reports on rheumatic &amp; musculoskeletal diseases
2022

A First-Case Report of Pycnodysostosis in an Omani Boy.

Journal of pediatric genetics
2019

Intramedullary Canal-creation Technique for Patients with Osteopetrosis.

Strategies in trauma and limb reconstruction
2020

Bilateral optic disc edema in a case of pycnodysostosis.

Journal francais d'ophtalmologie
2020

Alternative Method for Full Oral Rehabilitation in Patients with Pycnodysostosis Syndrome: A Case Report.

Clinical, cosmetic and investigational dentistry
2020

A Case Report of Pycnodysostosis Associated with Multiple Pituitary Hormone Deficiencies and Response to Treatment.

Journal of clinical research in pediatric endocrinology
2020

Pycnodysostosis presented with tibial shaft fracture.

The Pan African medical journal
2020

Numerous Heinz bodies in a case of infantile pyknocytosis.

Blood
2020

A rare case of pycnodysostosis: Technical difficulties in managing long bone fractures.

Journal of clinical orthopaedics and trauma
2020

Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis.

Molecular genetics &amp; genomic medicine
2020

Genetic testing is useful in adults with limited phenotypes of genetic skeletal conditions.

Bone
2019

Pycnodysostosis in an Adult: A Case Report and Review of the Literature.

Ear, nose, &amp; throat journal
2020

Sleep-disordered breathing in children with pycnodysostosis.

American journal of medical genetics. Part A
2019

Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia.

Calcified tissue international
2019

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.

Clinical genetics
2019

Disturbed remodeling and delayed fracture healing in pediatric pycnodysostosis patients.

Journal of orthopaedics
2018

[Pycnodysostosis: about a case].

The Pan African medical journal
2019

A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report.

Clinical medicine insights. Case reports
2019

ClC-7 Regulates the Pattern and Early Development of Craniofacial Bone and Tooth.

Theranostics
2018

[Family picnodisostosis, report of a case after 10 years of follow-up].

Acta ortopedica mexicana
2018

Anaesthetic Considerations in a Patient with Pycnodysostosis undergoing Caesarean Delivery.

Case reports in anesthesiology
2019

Multisuture Craniosynostosis and Papilledema in Pycnodysostosis: A Paradox?

The Journal of craniofacial surgery
2018

Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review.

JBMR plus
2018

Not all pycnodysostosis-related mutants of human cathepsin K are inactive - crystal structure and biochemical studies of an active mutant I249T.

The FEBS journal
2018

An Update on Osteomyelitis Treatment in a Pycnodysostosis Patient.

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons
2018

Pycnodysostosis: the disease of Henri de Toulouse-Lautrec.

European journal of orthopaedic surgery &amp; traumatology : orthopedie traumatologie
2018

Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
2018

Articular cartilage protection in Ctsk-/- mice is associated with cellular and molecular changes in subchondral bone and cartilage matrix.

Journal of cellular physiology
2018

Short stature and bone structure abnormalities in two siblings. Pycnodysostosis (also known as osteopetrosis acro-osteolytica).

Skeletal radiology
2018

Human Genetics of Sclerosing Bone Disorders.

Current osteoporosis reports
2018

Traumatic cervical spine injuries in a patient with pycnodysostosis.

European journal of orthopaedic surgery &amp; traumatology : orthopedie traumatologie
2018

Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor.

Journal of pediatric genetics
2017

Pycnodysostosis with novel gene mutation and sporadic medullary thyroid carcinoma: A case report.

Medicine
2018

Highly Conserved Arg Residue of ERFNIN Motif of Pro-Domain is Important for pH-Induced Zymogen Activation Process in Cysteine Cathepsins K and L.

Cell biochemistry and biophysics
2017

Clinical and Radiographic Features of Pycnodysostosis with Emphasis on Dentofacial Problems.

Case reports in dentistry
2017

Clinical and radiographic features of pycnodysostosis: A case report.

Journal of clinical and experimental dentistry
2017

Cathepsin K Inhibitors for Osteoporosis: Biology, Potential Clinical Utility, and Lessons Learned.

Endocrine reviews
2017

Pycnodysostosis at otorhinolaryngology.

International journal of pediatric otorhinolaryngology
2017

Pycnodysostosis: Clinicoradiographic Report of a Rare Case.

Contemporary clinical dentistry
2017

A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes.

Medicine
2017

Distribution of Cathepsin K in Late Stage of Tooth Germ Development and Its Function in Degrading Enamel Matrix Proteins in Mouse.

PloS one
2016

Accordion Maneuver with Modified Ilizarov Frame for treatment of recalcitrant nonunion of shaft of femur in a patient with Pycnodysostosis.

Journal of clinical orthopaedics and trauma
2017

Bilateral choanal atresia in an adult woman with pycnodysostosis.

Congenital anomalies
2017

Inherited diseases caused by mutations in cathepsin protease genes.

The FEBS journal
2016

Orthopaedic disorders of pycnodysostosis: a report of five clinical cases.

International orthopaedics
2016

Short stature Revealing a Pycnodysostosis: A Case Report.

Journal of orthopaedic case reports
2016

Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.

European journal of medical research
2016

Oral Lesions in Pycnodysostosis Syndrome: Eleven Years of Follow-Up.

The Journal of craniofacial surgery
2017

Effects of cathepsin K on Emdogain-induced hard tissue formation by human periodontal ligament stem cells.

Journal of tissue engineering and regenerative medicine
2016

[Multiple long bone fractures in a child with pycnodysostosis. A case report].

Archivos argentinos de pediatria
2016

Pycnodysostosis: mutation spectrum in five unrelated Indian children.

Clinical dysmorphology
2016

Risk of difficult intubation may increase with age in pediatric patients with pycnodysostosis.

Paediatric anaesthesia
2016

Cathepsin K osteoporosis trials, pycnodysostosis and mouse deficiency models: Commonalities and differences.

Expert opinion on drug discovery
2016

From disease to treatment: from rare skeletal disorders to treatments for osteoporosis.

Endocrine
2016

Pycnodysostosis presenting as atypical stridor.

European annals of otorhinolaryngology, head and neck diseases
2016

Left clavicular fracture. Pyknodysostosis.

Skeletal radiology
2015

Pycnodysostosis: A rare cause of short stature.

Medical journal, Armed Forces India
2015

Pycnodysostosis with Special Emphasis on Dentofacial Characteristics.

Case reports in dentistry
2016

The role of cathepsin K in oral and maxillofacial disorders.

Oral diseases
2015

[Pycnodysostosis, a case report].

Presse medicale (Paris, France : 1983)
2015

Total Hip Arthroplasty after Treatment of an Atypical Subtrochanteric Femoral Fracture in a Patient with Pycnodysostosis.

Case reports in orthopedics
2015

Management of chronic suppurative osteomyelitis in a patient with pycnodysostosis by intra-lesional antibiotic therapy.

Journal of natural science, biology, and medicine
2015

Pycnodysostosis with a patella fracture.

The lancet. Diabetes &amp; endocrinology
2015

Miscellaneous Bone Disorders.

Endocrine development
2015

Atypical femur fractures in a patient with pycnodysostosis: a case report.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
2015

The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders.

Best practice &amp; research. Clinical endocrinology &amp; metabolism
2015

Novel targets for the prevention of osteoporosis - lessons learned from studies of metabolic bone disorders.

Expert opinion on therapeutic targets
2015

Pycnodysostosis with Multi-Segmental Spinal Canal Stenosis due to Ossification of the Yellow Ligament.

Asian spine journal
2015

Osteomyelitis in pycnodysostosis - report of 2 clinical cases.

Journal of clinical and diagnostic research : JCDR
2015

Primary osteolysis syndromes: beware of difficult airway.

Paediatric anaesthesia
2015

Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations.

Journal of dental research
2015

A Mutation in CTSK Gene in an Autosomal Recessive Pycnodysostosis Family of Chinese Origin.

Calcified tissue international
2015

Clinical and cephalometric analysis of three cases with pycnodysostosis: case reports.

Journal of Istanbul University Faculty of Dentistry
2014

Pycnodysostosis: A bone dysplasia with unusual oral manifestation.

Indian journal of dentistry
2014

Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings.

International journal of clinical and experimental medicine
Ver todos os 295 no EuropePMC

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Management of pregnancy in a woman with a new diagnosis of pycnodysostosis: A case report.
    Case reports in women's health· 2026· PMID 41852695mais citado
  2. Spontaneous Fracture of the Atlas in a Patient with Pycnodysostosis and Mandibular Osteomyelitis - A Case Report.
    Annals of maxillofacial surgery· 2025· PMID 41726200mais citado
  3. Pycnodysostosis and obstructive sleep apnea: Observations on 10 cases.
    Respiratory medicine case reports· 2025· PMID 41450906mais citado
  4. Head Trauma in Pycnodysostosis: An Imagiological Challenge.
    Cureus· 2025· PMID 41311756mais citado
  5. When Bones Tell a Story: Diaphyseal Femoral Fracture in a Child With Pycnodysostosis.
    Cureus· 2025· PMID 41185790mais citado
  6. Editorial: Bone health and development in children and adolescents, volume II.
    Front Endocrinol (Lausanne)· 2025· PMID 41189620recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:763(Orphanet)
  2. OMIM OMIM:265800(OMIM)
  3. MONDO:0009940(MONDO)
  4. GARD:4611(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. Q974928(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Picnodisostose
Compêndio · Raras BR

Picnodisostose

ORPHA:763 · MONDO:0009940
Prevalência
1-9 / 1 000 000
Herança
Autosomal recessive
CID-10
Q78.8 · Outras osteocondrodisplasias especificadas
CID-11
Início
Adolescent, Adult, Childhood, Infancy
Prevalência
0.13 (Worldwide)
MedGen
UMLS
C0238402
EuropePMC
Wikidata
Wikipedia
Papers 10a
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