Contents

SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences
Skin fragility-woolly hair syndrome
Other Resources UpToDate PubMed

Skin fragility-woolly hair syndrome

Contributors: Samantha Guhan, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Skin fragility-woolly hair syndrome (SFWHS) is an autosomal recessive disease characterized by focal and diffuse palmoplantar keratoderma (PPK), woolly hair, recurrent bullae, and nail dystrophy, without the presence of cardiomyopathy. It is caused by a homozygous or a compound heterozygous mutation in desmoplakin, a critical component of desmosomes, which bind cells of the epidermis together.

To date, only 10 cases of SFWHS have been reported. These patients have hyperkeratotic plaques on their extremities and trunk, PPK, nail dystrophy, and woolly hair (tightly curled and slow growing) with some areas of alopecia. Recurrent infections from the recurrent bullae have been reported. Unlike other desmosome disorders, SFWHS does not improve with age. Patients with SFWHS do not suffer from cardiac abnormalities, unlike in Carvajal syndrome (CS), a similar disorder; however, overlapping cases of SFWHS and CS have been reported.

Codes

ICD10CM:
Q82.9 – Congenital malformation of skin, unspecified

SNOMEDCT:
764108000 – Wooly hair with palmoplantar keratoderma syndrome

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

To perform a comparison, select diagnoses from the classic differential

Subscription Required

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed:04/24/2019
Last Updated:01/24/2022
Copyright © 2024 VisualDx®. All rights reserved.
Skin fragility-woolly hair syndrome
Print  
A medical illustration showing key findings of Skin fragility-woolly hair syndrome
Copyright © 2024 VisualDx®. All rights reserved.