Unilateral generalized hypertrichosis in proteus syndrome.

Area of Science:

• Medical genetics
• Dermatology
• Clinical case study

Background:

• Proteus syndrome is a rare congenital disorder characterized by segmental overgrowth and a mosaic pattern of somatic mutations.
• Clinical manifestations of Proteus syndrome are highly variable, including hemihypertrophy, scoliosis, and epidermal nevi.
• Unilateral generalized hypertrichosis is excessive hair growth on one side of the body, with diverse underlying causes.

Purpose of the Study:

• To report a rare case of Proteus syndrome in a young woman.
• To describe the co-occurrence of unilateral generalized hypertrichosis with Proteus syndrome.
• To highlight a potentially novel association in medical literature.

Main Methods:

• Clinical examination of a young female patient.
• Review of patient's medical history and physical findings.
• Literature search for similar reported cases.

Main Results:

• The patient presented with hemihypertrophy, scoliosis, subcutaneous swellings, patchy dermal hypoplasia, plantar hyperplasia, and macrodactyly, consistent with Proteus syndrome.
• The patient also exhibited unilateral generalized hypertrichosis.
• No prior reports documented the simultaneous occurrence of Proteus syndrome and unilateral generalized hypertrichosis.

Conclusions:

• This case presents a unique association between Proteus syndrome and unilateral generalized hypertrichosis.
• Further research may be warranted to explore potential pathogenetic links or shared etiologies.
• This finding expands the spectrum of clinical presentations associated with Proteus syndrome.