A hipotricose simples (HS) ou hipotricose simples hereditária (HHS) é caracterizada pela redução da pilosidade no couro cabeludo e no corpo (com cabelos ralos, finos e curtos) na ausência de outras anomalias.
Introdução
O que você precisa saber de cara
A hipotricose simples é uma condição genética rara em que a pessoa nasce ou desenvolve cabelos ralos, finos, curtos e diminuição de pelos pelo corpo, sem que outros órgãos sejam afetados. Os primeiros sinais costumam aparecer ainda durante a infância, quando a família nota a dificuldade de crescimento ou a fragilidade dos fios. A causa está em alterações genéticas hereditárias que afetam a estrutura e o ciclo de vida dos folículos pilosos. No Brasil, a doença não conta com remédios curativos dispensados pelo SUS e não possui um protocolo oficial (PCDT) no Ministério da Saúde. O acompanhamento é feito por meio de cuidados dermatológicos e apoio clínico na rede pública de saúde.
A hipotricose simples (HS) ou hipotricose simples hereditária (HHS) é caracterizada pela redução da pilosidade no couro cabeludo e no corpo (com cabelos ralos, finos e curtos) na ausência de outras anomalias.
O que está sendo pesquisado
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 8 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 33 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
7 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Woolly hair autosomal recessive 1 with or without hypotrichosis
A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals exhibit features of hypotrichosis.
Hypotrichosis 6
A condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed. HYPT6 inheritance is autosomal recessive.
Hypotrichosis 1
A rare form of non-syndromic hereditary hypotrichosis without characteristic hair shaft anomalies. Affected individuals typically show normal hair at birth, but hair loss and thinning of the hair shaft start during early childhood and progress with age. HYPT1 inheritance is autosomal dominant.
Hypotrichosis 7
A condition characterized by the presence of less than the normal amount of hair. Affected individuals have sparse or absent scalp, axillary and body hair and sparse eyebrows and eyelashes. HYPT7 inheritance is autosomal recessive.
Hypotrichosis 12
A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT12 patients have normal scalp hair density at birth. Hair loss begins during the first 6 months of life and gradually progresses to nearly complete loss of scalp hair. The remaining hairs grow slowly and are thin, sparse, dry, and fragile. Body hair, axillary and pubic hair, eyebrows and eyelashes are also sparse or absent. HYPT12 inheritance is autosomal dominant.
Hypotrichosis 11
A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT11 is an autosomal dominant form characterized by scanty or absent eyebrows and a highly variable degree of alopecia since birth, ranging from slight thinning of scalp and axillary hair to complete loss of scalp and body hair. Pubic hair remains mainly unaffected.
Cataract 44
An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.
Medicamentos e terapias
Mecanismo: Prostanoid FP receptor agonist
Variantes genéticas (ClinVar)
208 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 3 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
32 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Hipotricose simples
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Com ensaio aberto em 12 países. O ponto verde marca onde há vaga agora.
🟢 Recrutando agora
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
5 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Hypotrichosis simplex type 7: A rare cause of non-syndromic woolly hair.
Novel biallelic LSS variants in autosomal recessive hypotrichosis simplex: insights from a multi-omics approach.
Autosomal recessive hereditary hypotrichosis simplex: A case report.
Hereditary hypotrichosis simplex with SNRPE gene mutation.
Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report.
Hypotrichosis simplex of the scalp (HSS) is a clinically rare monogenic autosomal dominant disorder associated with variants in the gene CDSN, which encodes the desmosome protein corneodesmosin. Although studies have reported that some medications can improve the symptoms of hair loss in HSS, there is still a lack of definitive and effective treatments for this disease. We report a familial case of HSS in an 8-year-old male child diagnosed with HSS caused by a mutation in CDSN, who was treated with botanical extracts in combination with minoxidil, which resulted in significant hair growth after two treatments. This is the first study describing the improvement of clinical symptoms of HSS with oral botanical extracts. This suggests that botanical extracts in combination with minoxidil may be a therapeutic approach for HSS in the clinic.
Publicações recentes
Novel biallelic LSS variants in autosomal recessive hypotrichosis simplex: insights from a multi-omics approach.
Hypotrichosis simplex type 7: A rare cause of non-syndromic woolly hair.
Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report.
Autosomal recessive hereditary hypotrichosis simplex: A case report.
Hereditary hypotrichosis simplex with SNRPE gene mutation.
📚 EuropePMC56 artigos no totalmostrando 33
Novel biallelic LSS variants in autosomal recessive hypotrichosis simplex: insights from a multi-omics approach.
Human geneticsHypotrichosis simplex type 7: A rare cause of non-syndromic woolly hair.
Indian journal of dermatology, venereology and leprologyTreatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report.
Frontiers in geneticsAutosomal recessive hereditary hypotrichosis simplex: A case report.
JAAD case reportsHereditary hypotrichosis simplex with SNRPE gene mutation.
Indian journal of dermatology, venereology and leprologyIsotretinoin-induced hair growth in a case of hereditary hypotrichosis simplex of the scalp: A promising therapeutic approach.
JAAD case reportsTwo novel mutations in LSS gene associated with hypotrichosis simplex in a Chinese family.
Journal of cosmetic dermatology[Genetic analysis of a child with Hypotrichosis simplex].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsA case of LSS-associated congenital nuclear cataract with hypotrichosis and literature review.
American journal of medical genetics. Part ADevelopment of Woolly Hair and Hairlessness in a CRISPR-Engineered Mutant Mouse Model with KRT71 Mutations.
CellsA novel heterozygous missense variant in ribosomal protein L21 associated with familial hypotrichosis simplex.
Clinical and experimental dermatologyFamilial hypotrichosis simplex of the scalp associated with a novel heterozygous nonsense variant in CDSN.
Clinical and experimental dermatologyNovel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia.
American journal of medical genetics. Part AA novel homozygous mutation in LSS gene possibly causes hypotrichosis simplex in two siblings of a Tibetan family from the western Sichuan province of China.
Frontiers in physiologySuccessful treatment of hereditary hypotrichosis simplex by platelet rich plasma injection with topical minoxidil 2.
The Journal of dermatological treatmentA Novel Pathogenic CDH3 Variant underlying Heredity Hypotrichosis Simplex detected by Whole-Exome Sequencing (WES)-A Case Report.
Cold Spring Harbor molecular case studiesTreatment of hereditary hypotrichosis simplex of the scalp with oral minoxidil and growth factors.
Dermatologic therapyHypotrichosis simplex of the scalp and peeling skin disease, two sides of the same coin.
Journal of the European Academy of Dermatology and Venereology : JEADVApplication of topical gentamicin-a new era in the treatment of genodermatosis.
World journal of pediatrics : WJPDiffuse congenital hypotrichosis simplex with associated hair shaft fragility.
The Australasian journal of dermatologyFour hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.
American journal of medical genetics. Part AA Nonsense Variant in Hephaestin Like 1 (HEPHL1) Is Responsible for Congenital Hypotrichosis in Belted Galloway Cattle.
GenesAdditional causal SNRPE mutations in hereditary hypotrichosis simplex.
The British journal of dermatologyNovel mutations in Chinese hypotrichosis simplex patients associated with LSS gene.
The Journal of dermatologyReading through genetic 'stop signs': a therapeutic strategy in genetic skin disease.
The British journal of dermatologyAutosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.
PloS oneTreatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin.
The British journal of dermatologyMutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp.
The Journal of dermatology[Involvement of cholesterol metabolism in hypotrichosis simplex].
Annales de dermatologie et de venereologieBiallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Genetics in medicine : official journal of the American College of Medical GeneticsBi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
American journal of human geneticsA novel insertion mutation of CDSN responsible for hypotrichosis simplex of scalp in a Chinese family.
Clinical and experimental dermatologyHereditary hypotrichosis simplex of the scalp.
CutisAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Hipotricose simples e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
A hipotricose simples é uma doença genética caracterizada pela escassez de pelos corporais e cabelos curtos, finos e ralos. Ela se manifesta tipicamente sem estar associada a outras anormalidades físicas em órgãos internos.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
5 publicações do grafo RarasNet (PubMed) · 6 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (s.d.). Hipotricose simples. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/hipotricose-simples
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Hipotricose simples
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Moléculas estudadas na doença
- fonte: OpenTargets
- Ensaios clínicos
- fonte: ClinicalTrials.gov