Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts.

Area of Science:

• Genetics and Molecular Biology
• Dermatology
• Rare Diseases

Background:

• Clouston syndrome, or hidrotic ectodermal dysplasia (HED), is an autosomal dominant disorder.
• It is characterized by a triad of nail dystrophy, generalized hypotrichosis, and palmoplantar keratoderma.
• HED is caused by mutations in the GJB6 gene encoding connexin 30 (Cx30).

Observation:

• A 24-year-old male presented with symptoms consistent with Clouston syndrome.
• The patient exhibited onychodystrophy, generalized hypotrichosis, and diffuse palmoplantar hyperkeratosis.
• Notably, the patient also presented with multiple epidermoid cysts on the head and genitals.

Findings:

• The patient's presentation included the classical triad of Clouston syndrome: nail abnormalities, sparse hair, and thickened palms and soles.
• The presence of multiple epidermoid cysts was a unique and previously unreported clinical feature in Clouston syndrome.
• Differential diagnosis included pachyonychia congenita, distinguished by the absence of oral leukokeratosis and the diffuse nature of palmoplantar keratoderma.

Implications:

• This case highlights the phenotypic variability of Clouston syndrome.
• The association of epidermoid cysts with Clouston syndrome expands the known clinical spectrum of this rare ectodermal dysplasia.
• Further genetic studies are warranted to confirm the diagnosis and understand the underlying mechanisms.