Almost Unilateral Focal Dermal Hypoplasia

Area of Science:

• Genetics
• Dermatology
• Rare Diseases

Background:

• Focal dermal hypoplasia, or Goltz syndrome, is an X-linked ectodermal dysplasia caused by PORCN gene mutations.
• Unilateral or predominantly unilateral forms are exceptionally rare, with only seven cases previously documented worldwide.

Observation:

• A 19-year-old female presented with scalp defects, skin lesions on the right leg and trunk, and syndactyly of the right toes.
• Clinical examination revealed atrophic plaques, a herniated fat mass with telangiectasia on the right leg, and an alopecic scar on the scalp.
• Histopathological analysis showed dermal atrophy, collagen loss, and aberrant fat cell extension in the upper dermis.

Findings:

• The patient was diagnosed with almost unilateral focal dermal hypoplasia based on clinical and histological evidence.
• This represents the first reported case in the Republic of Korea.

Implications:

• This case expands the known spectrum of focal dermal hypoplasia presentation.
• Highlights the importance of recognizing rare unilateral manifestations of genetic skin disorders.
• Management involved referral for surgical correction of syndactyly and scalp defects.