H Syndrome: Three New Cases from Morocco.

Area of Science:

• Genetics
• Dermatology
• Rare Diseases

Background:

• This report details a rare case of a 19-year-old female with a history of consanguineous marriage.
• The patient exhibited delayed motor acquisition, stature growth, hypoacusis, hallux valgus, contractures, and recurrent fevers.

Observation:

• The patient presented with symmetric, bilateral, indurated hyperpigmentation initially on the axillary fold at age 14, extending to the lower back and thighs.
• Histologic analysis revealed epidermal acanthosis, hyperkeratosis, keratinocyte hyperpigmentation, spongiosis, and moderate inflammation.
• Immunohistochemistry identified macrosialin (CD68+) and common gamma chain (CD132).

Findings:

• The patient's clinical presentation and histological findings suggest a rare genetic condition.
• Germline mutations in the SLC29A3 gene were suspected but not analyzed.
• Standard laboratory and ultrasound tests were within normal limits.

Implications:

• This case highlights the importance of considering rare genetic disorders in patients with complex dermatological and developmental symptoms.
• Further investigation into SLC29A3 gene mutations could lead to improved diagnostic and therapeutic strategies for similar conditions.
• Understanding the pathophysiology of this disorder may offer insights into keratinocyte biology and inflammatory skin conditions.