# Anomalia do cabelo

> Página oficial: https://raras.org/doenca/anomalia-do-cabelo
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 79363 — https://www.orpha.net/en/disease/detail/79363
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Anomalia do cabelo é uma condição rara associada a defeitos no desenvolvimento capilar, frequentemente acompanhada por persistência do canal arterial, constipação crônica e fadiga. Outros achados podem incluir espasmos musculares, alterações cutâneas e anomalias esqueléticas.

## Epidemiologia e herança


## Sinais e sintomas (269 fenótipos HPO)

- **Persistência do canal arterial** — HPO: HP:0001643
- **Constipação crônica** — HPO: HP:0012450
- **Arco aórtico hipoplásico** — HPO: HP:0012304
- **Espasmos musculares dolorosos intermitentes** — HPO: HP:0011964
- **Pápula** — HPO: HP:0200034
- **Eritema** — HPO: HP:0010783
- **Acantose epidérmica** — HPO: HP:0025092
- **Hiperceratose folicular** — HPO: HP:0007502
- **Metatarso curto** — HPO: HP:0010743
- **Fadiga** — HPO: HP:0012378
- **Testa proeminente** — HPO: HP:0011220
- **Sobrancelha esparsa** — HPO: HP:0045075
- **Comedão** — HPO: HP:0025249
- **Vesícula cutânea** — HPO: HP:0200037
- **Ictiose** — HPO: HP:0008064
- **Descamação da pele** — HPO: HP:0040189
- **Habilidade atrasada de andar** — HPO: HP:0031936
- **Liquenificação** — HPO: HP:0100725
- **Hepatite** — HPO: HP:0012115
- **Queilite angular** — HPO: HP:0030318
- **Cabelo branco** — HPO: HP:0011364
- **Traquioníquia** — HPO: HP:0030804
- **Anormalidade da textura capilar** — HPO: HP:0010719
- **Mielofibrose** — HPO: HP:0011974
- **Anormalidade do cotovelo** — HPO: HP:0009811
- **Cabelo do couro cabeludo de crescimento lento** — HPO: HP:0100038
- **Dificuldades alimentares** — HPO: HP:0011968
- **Lesões papilares generalizadas** — HPO: HP:0007482
- **Cabelo anágeno frouxo** — HPO: HP:0040169
- **Cabelo seco** — HPO: HP:0011359
- **Cabelo impenteável** — HPO: HP:0030056
- **Hipoplasia do ovário** — HPO: HP:0008724
- **Aplasia/Hipoplasia da sobrancelha** — HPO: HP:0100840
- **Neoplasia da cavidade oral** — HPO: HP:0100649
- **Diabetes mellitus tipo 1** — HPO: HP:0100651
- **Creatina quinase levemente elevada** — HPO: HP:0008180
- **Padrão anormal do cabelo** — HPO: HP:0010720
- **Anormalidade da cor dentária** — HPO: HP:0011073
- **Pústula** — HPO: HP:0200039
- **Translucidez dérmica** — HPO: HP:0010648
- _...e mais 229 sintomas. Ver https://raras.org/doenca/anomalia-do-cabelo._

## Genes associados (19)

- **DSG4** — Desmoglein-4 [Disease-causing germline mutation(s) in]
  - Função: A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (By similarity). Coordinates the transition from proliferation to differentiation in hair f
- **KRT25** — Keratin, type I cytoskeletal 25 [Disease-causing germline mutation(s) in]
  - Função: Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs) (By similarity). Plays a role in the cy
- **KRT74** — Keratin, type II cytoskeletal 74 [Disease-causing germline mutation(s) in]
  - Função: Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable)
- **APCDD1** — Protein APCDD1 [Disease-causing germline mutation(s) in]
  - Função: Negative regulator of the Wnt signaling pathway. Inhibits Wnt signaling in a cell-autonomous manner and functions upstream of beta-catenin. May act via its interaction with Wnt and LRP proteins. May p
- **CDSN** — Corneodesmosin [Disease-causing germline mutation(s) in]
  - Função: Important for the epidermal barrier integrity
- **PADI3** — Protein-arginine deiminase type-3 [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the deimination of arginine residues of proteins
- **DSC3** — Desmocollin-3 [Disease-causing germline mutation(s) in]
  - Função: A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (By similarity). Required for cell-cell adhesion in the epidermis, as a result required for
- **PPP1CB** — Serine/threonine-protein phosphatase PP1-beta catalytic subunit [Disease-causing germline mutation(s) in]
  - Função: Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase (PP1) is essential f
- **HR** — Lysine-specific demethylase hairless [Disease-causing germline mutation(s) in]
  - Função: Histone demethylase that specifically demethylates both mono- and dimethylated 'Lys-9' of histone H3. May act as a transcription regulator controlling hair biology (via targeting of collagens), neural
- **SHOC2** — Leucine-rich repeat protein SHOC-2 [Disease-causing germline mutation(s) in]
  - Função: Core component of the SHOC2-MRAS-PP1c (SMP) holophosphatase complex that regulates activation of the MAPK pathway (PubMed:10783161, PubMed:16630891, PubMed:25137548, PubMed:35768504, PubMed:35830882,
- **LPAR6** — Lysophosphatidic acid receptor 6 [Disease-causing germline mutation(s) in]
  - Função: Binds to oleoyl-L-alpha-lysophosphatidic acid (LPA). Intracellular cAMP is involved in the receptor activation. Important for the maintenance of hair growth and texture
- **HLA-DRA** — HLA class II histocompatibility antigen, DR alpha chain [Candidate gene tested in]
  - Função: An alpha chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. In complex with the beta chain HLA-DRB, displays antigenic peptides on professional antigen presenting
- **SNRPE** — Small nuclear ribonucleoprotein E [Disease-causing germline mutation(s) in]
  - Função: Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:1
- **KRT71** — Keratin, type II cytoskeletal 71 [Disease-causing germline mutation(s) in]
  - Função: Plays a central role in hair formation. Essential component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle
- **TGM3** — Protein-glutamine gamma-glutamyltransferase E [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the calcium-dependent formation of isopeptide cross-links between glutamine and lysine residues in various proteins, as well as the conjugation of polyamines to proteins. Involved in the for

## Medicamentos em desenvolvimento (9)

- MINOXIDIL — Fase Phase 4 (Sulfonylurea receptor 2, Kir6.2 opener)
- RITLECITINIB TOSYLATE — Fase Phase 4 (TEC family kinase inhibitor)
- FINASTERIDE — Fase Phase 4 (Steroid 5-alpha-reductase 2 inhibitor)
- BIMATOPROST — Fase Phase 4 (Prostanoid FP receptor agonist)
- CLASCOTERONE — Fase Phase 3 (Androgen Receptor antagonist)
- RUXOLITINIB — Fase Phase 3 (Tyrosine-protein kinase JAK2 inhibitor)
- UPADACITINIB — Fase Phase 3 (Tyrosine-protein kinase JAK2 inhibitor)
- HYDROCORTISONE — Fase Phase 3 (Glucocorticoid receptor agonist)
- RITLECITINIB — Fase Phase 3 (TEC family kinase inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0019278

## Ensaios clínicos ativos (5)

- **NCT03661866** [ACTIVE_NOT_RECRUITING]: A Longitudinal Observational Study of Patients Undergoing Therapy for IMISC — https://clinicaltrials.gov/study/NCT03661866
- **NCT04074512** [APPROVED_FOR_MARKETING]: Copper Histidinate Treatment for Menkes Disease — https://clinicaltrials.gov/study/NCT04074512
- **NCT04337684** [ACTIVE_NOT_RECRUITING]: Long Term Follow-up on Menkes Disease Patients — https://clinicaltrials.gov/study/NCT04337684
- **NCT04978428** [COMPLETED]: Epidiolex in Obsessive Compulsive Disorder and Related Disorders — https://clinicaltrials.gov/study/NCT04978428
- **NCT05544448** [COMPLETED]: In Vitro Effect Study of Interleukin-2 Muteins on Regulatory T Cells of Patients With Different Autoimmune, Allo-immune or Inflammatory Diseases — https://clinicaltrials.gov/study/NCT05544448

## Centros de referência no Brasil (24)

- Hospital Universitário Prof. Edgard Santos (HUPES) (Salvador/BA)
- Hospital Infantil Albert Sabin (Fortaleza/CE)
- Hospital de Apoio de Brasília (HAB) (Brasília/DF)
- Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA) (Vila Velha/ES)
- Hospital das Clínicas da UFG (Goiânia/GO)
- Hospital Universitário da UFJF (Juiz de Fora/MG)
- Hospital das Clínicas da UFMG (Belo Horizonte/MG)
- Hospital Universitário Julio Müller (HUJM) (Cuiabá/MT)
- Hospital Universitário João de Barros Barreto (Belém/PA)
- Hospital Universitário Lauro Wanderley (HULW) (João Pessoa/PB)
- Instituto de Medicina Integral Prof. Fernando Figueira (IMIP) (Recife/PE)
- Hospital Pequeno Príncipe (Curitiba/PR)
- Hospital Universitário Regional de Maringá (HUM) (Maringá/PR)
- Hospital de Clínicas da UFPR (Curitiba/PR)
- Hospital Universitário Pedro Ernesto (HUPE-UERJ) (Rio de Janeiro/RJ)
- Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz) (Rio de Janeiro/RJ)
- Hospital São Lucas da PUCRS (Porto Alegre/RS)
- Hospital de Clínicas de Porto Alegre (HCPA) (Porto Alegre/RS)
- Hospital Universitário da UFSC (HU-UFSC) (Florianópolis/SC)
- Hospital das Clínicas da FMUSP (São Paulo/SP)

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome do cabelo em fase anágena](https://raras.org/doenca/168) — ORPHA:168 — 130 sintomas em comum
- [Síndrome Noonan-like com cabelo em fase anágena solto](https://raras.org/doenca/sindrome-noonan-like-com-cabelo-em-fase-anagena-solto) — ORPHA:2701 — 126 sintomas em comum
- [Síndrome cardio-facio-cutâneo](https://raras.org/doenca/sindrome-cardio-facio-cutaneo) — ORPHA:1340 — 84 sintomas em comum
- [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 72 sintomas em comum
- [Tricotiodistrofia](https://raras.org/doenca/tricotiodistrofia) — ORPHA:33364 — 57 sintomas em comum
- [Monossomia parcial do braço longo do cromossomo 11](https://raras.org/doenca/monossomia-parcial-do-braco-longo-do-cromossomo-11) — ORPHA:262092 — 56 sintomas em comum
- [Síndrome ADNP](https://raras.org/doenca/sindrome-adnp) — ORPHA:404448 — 54 sintomas em comum
- [Síndrome White-Sutton](https://raras.org/doenca/sindrome-white-sutton) — ORPHA:468678 — 54 sintomas em comum
- [Monossomia parcial do cromossomo 3](https://raras.org/doenca/monossomia-parcial-do-cromossomo-3) — ORPHA:261776 — 54 sintomas em comum
- [Trissomia parcial do cromossomo 16](https://raras.org/doenca/trissomia-parcial-do-cromossomo-16) — ORPHA:262672 — 53 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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