Hyperkeratosis in Skin Dimples in Children With Down Syndrome

Area of Science:

• Dermatology
• Clinical Genetics
• Pediatrics

Background:

• Down syndrome (DS) is a common genetic disorder associated with various clinical features.
• Distinctive skin findings in DS patients are not fully characterized.
• Congenital skin alterations may serve as early indicators of DS.

Purpose of the Study:

• To describe a novel skin finding in infants with Down syndrome.
• To investigate the characteristics and natural history of hyperkeratosis in the skin dimples of DS patients.

Main Methods:

• Observational study of 39 infants and young children diagnosed with Down syndrome.
• Clinical examination, dermoscopy, and skin biopsies were performed.
• Follow-up assessments were conducted to monitor the skin condition.

Main Results:

• Thirty-nine DS patients presented with congenital rough, brownish skin in knee and/or elbow dimples.
• Dermoscopy showed hyperkeratosis with brownish scales; biopsies confirmed papillomatosis and mild hyperkeratosis.
• The skin condition resolved spontaneously in all followed cases.

Conclusions:

• Congenital hyperkeratosis in the skin dimples of the knees and elbows appears to be a characteristic finding in Down syndrome.
• This skin marker is potentially useful for early identification of DS.
• The condition has a benign, self-resolving course.