Congenital atrichia with papular lesions

Area of Science:

• Dermatology
• Genetics
• Pathology

Background:

• Congenital atrichia with papular lesions is a rare, autosomal recessive disorder.
• It is characterized by irreversible total alopecia (body hair loss) presenting shortly after birth.
• The condition is linked to mutations in the human hairless gene (NHG) located on chromosome 8p12.

Observation:

• A 1-year-old boy exhibited complete absence of scalp and body hair from birth.
• Examination revealed no hair on the scalp, eyebrows, or eyelashes.
• Multiple discrete, pearly-to-skin-colored papules (1-3mm) were observed on the scalp.

Findings:

• Skin biopsy of a scalp papule showed a normal epidermis.
• Histopathology revealed multiple keratin-filled cysts within the upper dermis.
• Hypoplastic hair follicles were noted in the upper dermis, consistent with the alopecia.

Implications:

• This case highlights the clinical and histopathological features of congenital atrichia with papular lesions.
• Understanding the genetic basis (hairless gene mutation) is crucial for diagnosis.
• Further research may explore potential therapeutic targets for hair follicle regeneration.