piebaldism  

Oleh:

Miftah, Antoni ; Ervianti, Evy

Jenis: Article from Journal - ilmiah nasional - tidak terakreditasi DIKTI
Dalam koleksi: BERKALA: Ilmu Penyakit Kulit dan Kelamin vol. 22 no. 01 (Apr. 2010), page 74-80.
Topik: piebaldism; white forelock; the c-kit gene

Ketersediaan

Perpustakaan FK Nomor Panggil: B02.K.01 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

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Background: Piebaldism is a rare autosomal dominant genetic disorder characterized by congenital life-long patches areas of depigmentation. This condition is due to an absence of melanocytes in affected skin and hair follicles as a result of mutations in the KIT gene on chromosome at 4q12. This mutation results in abnormal tyrosine kinase transmembrane receptors, decreases signal transduction, and causes abnormal melanocyte embryogenesis with defective me1anoblast proliferation, migration and distribution. Purpose: To know the pathomechanism, characteristic sign feature (established diagnosis), differential diagnosis, and examination must be perform for this disease. Case: A 5-year-old javanese boy came to our department with depigmented patches. There were white patch on the central portion of forehead (white fore1ock), depigmented patches with islands of normally pigmented patches on the abdomen, hypopigmented patches with hyperpigmented borders on his both legs. The size and appearance of patches had remained unchanged since birth. No family history was noted. The result of laboratory tests, consultation to ENT department and Opthalmologic department were normaL Histopathology examination from depigmented area revealed the decreased number or absent melanocytes and melanosome granules. Case management: The management was the usage of sunscreen, camouflage and sun avoidance during peak hours of ultraviolet exposure during a day. Conclusion: Piebaldism is a benign disorder. Pigmentary alteration usually stable and permanent and patient can have normal life span. However, giving information about genetic inheritance and education ofthis disorder to the patients and family member must be done clearly.

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