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.
Skin fragility-woolly hair syndrome
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Synopsis
Codes
ICD10CM:
Q82.9 – Congenital malformation of skin, unspecified
SNOMEDCT:
764108000 – Wooly hair with palmoplantar keratoderma syndrome
Q82.9 – Congenital malformation of skin, unspecified
SNOMEDCT:
764108000 – Wooly hair with palmoplantar keratoderma syndrome
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Differential Diagnosis & Pitfalls
Additional desmosome disorders:
- Other syndromes secondary to desmoplakin mutations:
- Carvajal syndrome (CS) – Autosomal recessive disorder characterized by keratoderma, woolly hair, and dilated cardiomyopathy.
- Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis – Autosomal dominant inheritance. Similar to Carvajal syndrome but with different reported causative mutations and additional tooth agenesis.
- Keratosis palmoplantaris striata II (PPKS2) – Autosomal dominant disorder characterized by palms with linear hyperkeratosis.
- Lethal acantholytic epidermolysis bullosa – Autosomal recessive disorder with rapidly progressive epidermolysis and skin / mucosal membrane fragility; usually lethal at a young age.
- Syndromes secondary to plakoglobin mutations:
- Naxos disease – Autosomal recessive condition from deletion of C-terminal plakoglobin domain, characterized by similar symptoms (PPK, woolly hair, and cardiac disorders).
- Arrhythmogenic right ventricular cardiomyopathy 12 – Autosomal dominant disorder characterized by only cardiac abnormalities.
- Syndromes secondary to plakophilin mutations:
- Ectodermal dysplasia / skin fragility syndrome (McGrath syndrome) – Characterized by diffuse superficial erosions and alopecia (no eyebrows, scalp hair, or eyelashes).
- Diffuse hereditary:
- Vorner syndrome – PPK secondary to mutations in keratin.
- Mal de Meleda keratoderma – PPK in a stocking-glove distribution and nail changes secondary to SLURP1 mutations.
- Vohwinkel syndrome – PPK in a diffuse honeycomb pattern secondary to mutations in connexin.
- Papillon-Lefevre syndrome – PPK, frequent infection, and periodontal disease secondary to a mutation in cathepsin.
- Olmsted syndrome – PPK with alopecia, nail changes, keratosis pilaris, palmoplantar pruritus, and perioral plaques.
- Focal hereditary:
- Howel-Evans syndrome – Focal, weight-bearing PPK and esophageal carcinoma secondary to mutations in TOC gene.
- Richner-Hanhart syndrome – PPK, intellectual disability, and corneal ulceration secondary to mutations in tyrosine aminotransferase.
- Acquired keratoderma:
- Paraneoplastic PPK
- Chemical PPK
- Aquagenic PPK
- PPK secondary to systemic disease
- Dermatopathia pigmentosa reticularis – Presents with the triad of reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. Nonscarring acral bullae may also be a feature.
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Last Reviewed:04/24/2019
Last Updated:04/10/2022
Last Updated:04/10/2022