Skin cancers, blindness, and anterior tongue mass in African brothers
| Autor: | Kate Sugarman, Priya Mahindra, Jere B. Stern, John J. DiGiovanna, Chyi-Chia Richard Lee, Thomas J. Hornyak, Brian P. Brooks, Andrew D. Montemarano, Kenneth H. Kraemer, Jaime S. Brahim, Janine A. Smith, Brian P. Driscoll, Deborah Tamura, Sikandar G. Khan |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Male
medicine.medical_specialty Skin Neoplasms Adolescent Eye disease Dermatology Thigh Blindness Article Consanguinity Young Adult Tongue Medicine Humans Basal cell carcinoma Photosensitivity Disorders Tongue Neoplasm Family history Nose Xeroderma Pigmentosum business.industry medicine.disease Surgery Tongue Neoplasms medicine.anatomical_structure Child Preschool Carcinoma Squamous Cell Sunlight Skin cancer business |
| Zdroj: | Journal of the American Academy of Dermatology. 59(5) |
| ISSN: | 1097-6787 |
| Popis: | HistoryTwo Northern African brothers presented to theNational Institutes of Health for evaluation of severedamage to sun-exposed areas of the skin, eyes, andmucosae; multiple skin cancers; a tongue mass; andphotophobia with loss of vision.The patients were born full term after uncompli-cated pregnancies and achieved age-appropriatedevelopmental milestones. Patient XP393BE (Fig 1,A), 23 years old, was noted to have freckle-likepigmented lesions on his face at 2.5 years andphotophobia by age 3 (Table I). A squamous cellcarcinoma(SCC)hadbeenremovedfromhisnoseatage 13 and the site was grafted with sun-shieldedskin from his thigh. His brother, patient XP394BE(Fig 1, D), 17 years old, developed freckle-likelesions on his face by 8 years of age. At age 13, anSCCwasexcisedfromhisrightcheek.Bothboyshadbilateral progressive loss of vision with unilateralblindness since the age of 12 to 14 years (Fig 1, B).PatientXP393BEhada10-year history ofaslowlyenlarging, painful, bleeding mass on the tip of histongue (Fig 2, A). He denied weight loss, excessiveconsumption of alcohol, or chewing of tobacco orbetel quid.LivinginKuwait,Sudan,Libya,andEgypt,neitherpatient had a history of sunburns or use of sunprotection. The patients have a 21-year-old unaf-fected brother. Their parents were second cousinsand members of the same tribe in the Sudan. Therewas no family history of cancer.Physical examinationSkin examination of both patients revealed nu-merous 1- to 5-mm hyperpigmented macules on thecheeksandscalp(seeFigs1and2)andsun-exposedportions of the chest and extremities with sparing ofsun-protected sites. Patient XP393BE had a 1.3- 31.7-cm stellate, indurated, black, brown and grayplaque on his left cheek (Fig 1, A). Dermatoscopyrevealed characteristic leaf-like structures and blue-gray ovoid nests that distinguish pigmented basalcell carcinoma from melanoma (Fig 1, C). A 1-cmnodular, ulcerated mass was present on the base ofhis nose, and there were multiple translucent blacklesions on his face. Patient XP394BE had a crusted,darklypigmentedplaqueontheleftalaandtipofthe |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect