Xeroderma pigmentosum group G with pellagroid rash: A rare presentation

Area of Science:

• Genetics
• Dermatology
• Rare Diseases

Background:

• Xeroderma pigmentosum (XP) is a group of rare genetic disorders characterized by defective DNA repair, leading to extreme sensitivity to ultraviolet (UV) radiation.
• XP exhibits a wide clinical spectrum, from mild photosensitivity to severe systemic manifestations including neurological and skeletal abnormalities, and a significantly increased risk of cutaneous malignancies.
• XP is genetically heterogeneous, with mutations in different DNA repair genes leading to distinct complementation groups (XP-A through XP-G and XP-V).

Observation:

• A 4-year-old boy diagnosed with Xeroderma pigmentosum group G presented with a distinct clinical manifestation.
• The patient exhibited a pellagroid rash, a clinical presentation not typically associated with the common symptoms of XP.

Findings:

• This case report details the clinical presentation of a child with XP group G.
• The observation of a pellagroid rash in this patient expands the known phenotypic variability of Xeroderma pigmentosum group G.
• This finding underscores the importance of recognizing diverse dermatological presentations in XP patients.

Implications:

• The recognition of a pellagroid rash in XP group G broadens the differential diagnosis for such skin conditions in patients with XP.
• This case emphasizes the need for comprehensive dermatological evaluation in XP patients, considering a wider range of potential symptoms.
• Further research may elucidate the specific mechanisms linking XP group G and pellagroid rash, potentially improving diagnostic and management strategies for XP patients.