Type E xeroderma pigmentosum: Rare case of siblings

Autor: Pallavi Kumari, Sonia Pramod Jain, Pratiksha Sonkusale, Abhay Vilas Deshmukh
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Clinical Dermatology Review, Vol 6, Iss 1, Pp 55-55 (2022)
Druh dokumentu: article
ISSN: 2542-551X
2542-5528
DOI: 10.4103/CDR.CDR_105_20
Popis: Xeroderma pigmentosum (XP) is an inherited condition with an extreme sensitivity to ultraviolet radiations. This condition mostly affects the eyes and areas of skin exposed to the sun and the nervous system. Here, we report a rare type XP E present in siblings. A 24 year old married female came to the dermatology outpatient Department with chief complaints of multiple dark-colored raised lesions over the nose, cheeks, eyebrows, forehead with hypopigmented lesions over bilateral forearm since 10 years. Her 21-year-old younger brother had similar lesions over face since 8 years. Both had a history of bilateral cataract with no neurological abnormality. Based on history, clinical and histopathological examination the diagnosis of XP E type was made. As per our knowledge, very few cases of this rare variety of XP E in siblings have been reported. Hence, we report this rare XP E in siblings.
Databáze: Directory of Open Access Journals
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