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Generalized hypotrichosis

MedGen UID:
867291
•Concept ID:
C4021653
•
Disease or Syndrome
Synonym: Hypotrichosis, generalized
 
HPO: HP:0004528

Definition

Reduced or lacking hair growth in a generalized distribution. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGeneralized hypotrichosis

Conditions with this feature

Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes
MedGen UID:
87435
•Concept ID:
C0342280
•
Disease or Syndrome
A rare genetic disease characterized by lipoatrophic diabetes, mild craniofacial dysmorphism (such as pronounced antitragal incisura and mandibular prognathism), ectodermal dysplasia (generalized hypotrichosis and dental and nail abnormalities), hypoplasia or aplasia of the breasts, and urogenital/renal anomalies. Additional reported manifestations include skeletal abnormalities and hepatosplenomegaly.
See: Condition Record
Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes

Professional guidelines

PubMed

Optimizing treatment management of trastuzumab deruxtecan in clinical practice of breast cancer.
Rugo HS, Bianchini G, Cortes J, Henning JW, Untch M
ESMO Open 2022 Aug;7(4):100553. Epub 2022 Aug 11 doi: 10.1016/j.esmoop.2022.100553. PMID: 35964548Free PMC Article
Alopecia Areata: an Update on Etiopathogenesis, Diagnosis, and Management.
Zhou C, Li X, Wang C, Zhang J
Clin Rev Allergy Immunol 2021 Dec;61(3):403-423. Epub 2021 Aug 17 doi: 10.1007/s12016-021-08883-0. PMID: 34403083
The Diagnosis and Treatment of Hair and Scalp Diseases.
Wolff H, Fischer TW, Blume-Peytavi U
Dtsch Arztebl Int 2016 May 27;113(21):377-86. doi: 10.3238/arztebl.2016.0377. PMID: 27504707Free PMC Article

Recent clinical studies

Etiology

Clouston Syndrome: 25-year follow-up of a patient.
Trídico LA, Antonio JR, Pozetti EM, Rosa AM, Antonio CR
An Bras Dermatol 2015 Nov-Dec;90(6):897-9. doi: 10.1590/abd1806-4841.20153990. PMID: 26734875Free PMC Article
Yunis-Varon syndrome: further delineation of the phenotype.
Basel-Vanagaite L, Kornreich L, Schiller O, Yacobovich J, Merlob P
Am J Med Genet A 2008 Feb 15;146A(4):532-7. doi: 10.1002/ajmg.a.32135. PMID: 18203163

Diagnosis

Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts.
Arif T, Amin SS, Adil M, Mohtashim M
Acta Dermatovenerol Croat 2017 Jul;25(2):161-163. PMID: 28871934
Clouston Syndrome: 25-year follow-up of a patient.
Trídico LA, Antonio JR, Pozetti EM, Rosa AM, Antonio CR
An Bras Dermatol 2015 Nov-Dec;90(6):897-9. doi: 10.1590/abd1806-4841.20153990. PMID: 26734875Free PMC Article
Yunis-Varon syndrome: further delineation of the phenotype.
Basel-Vanagaite L, Kornreich L, Schiller O, Yacobovich J, Merlob P
Am J Med Genet A 2008 Feb 15;146A(4):532-7. doi: 10.1002/ajmg.a.32135. PMID: 18203163
Progressive patterned scalp hypotrichosis, with wiry hair, onycholysis, and intermittently associated cleft lip and palate: clinical and genetic distinction from Marie Unna.
Green J, Fitzpatrick E, de Berker D, Forrest SM, Sinclair RD
J Investig Dermatol Symp Proc 2003 Jun;8(1):121-5. doi: 10.1046/j.1523-1747.2003.12185.x. PMID: 12895008

Prognosis

Clouston Syndrome: 25-year follow-up of a patient.
Trídico LA, Antonio JR, Pozetti EM, Rosa AM, Antonio CR
An Bras Dermatol 2015 Nov-Dec;90(6):897-9. doi: 10.1590/abd1806-4841.20153990. PMID: 26734875Free PMC Article
Yunis-Varon syndrome: further delineation of the phenotype.
Basel-Vanagaite L, Kornreich L, Schiller O, Yacobovich J, Merlob P
Am J Med Genet A 2008 Feb 15;146A(4):532-7. doi: 10.1002/ajmg.a.32135. PMID: 18203163

Clinical prediction guides

Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts.
Arif T, Amin SS, Adil M, Mohtashim M
Acta Dermatovenerol Croat 2017 Jul;25(2):161-163. PMID: 28871934

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