Focal dermal hypoplasia: a rare case report

Area of Science:

• Genetics
• Dermatology
• Pediatrics

Background:

• Focal dermal hypoplasia, also known as Goltz syndrome, is a rare genetic multisystem disorder.
• It primarily affects the skin, skeletal system, eyes, and face, presenting a diagnostic challenge due to its varied manifestations.

Purpose of the Study:

• To report a clinical case of Goltz syndrome in an infant.
• To detail the specific presentation and characteristic features observed in the patient.

Main Methods:

• Case report of an eight-month-old female infant.
• Clinical examination and documentation of presenting signs and symptoms.

Main Results:

• The patient exhibited multiple hypopigmented atrophic macules along the lines of Blaschko.
• Skeletal anomalies, umbilical hernia, developmental delay, hypoplastic nails, syndactyly, and lobster claw deformity were noted, consistent with Goltz syndrome.

Conclusions:

• This case underscores the importance of recognizing the diverse clinical spectrum of Goltz syndrome.
• Early identification of characteristic cutaneous and skeletal findings is crucial for timely diagnosis and management.