17. Genodermatoses

Xeroderma pigmentosum Other names DeSanctis-Cacchione syndrome[1][2]XP1 / XP2 / XP3 / XP4 / XP5 / XP6 / XP7 [3] Xeroderma pigmentosum I/II/III/IV/V/VI/VII [3] Xeroderma pigmentosum complementation group A/B/C/D/E/F/G [3] xeroderma pigmentosum group A/B/C/D/E/F/G [3] An eight-year-old girl from Guatemala with xeroderma pigmentosum[4] Specialty Medical genetics Symptoms Severe sunburn after only a few seconds in the sun, freckling in sun-exposed areas, dry skin, changes in skin… read more »

Keratosis pilaris Other names Follicular keratosis, lichen pilaris Condition on a calf Specialty Dermatology Keratosis pilaris (KP) (also follicular keratosis, lichen pilaris, or colloquially chicken skin[1]) is a common, autosomal dominant, genetic condition of the skin’s hair follicles characterized by the appearance of possibly itchy, small, gooseflesh-like bumps, with varying degrees of reddening or inflammation.[2] It most often appears on the outer sides of the upper arms (the forearms can… read more »

Epidermolysis bullosa simplex Epidermolysis bullosa simplex Specialty Medical genetics  Epidermolysis bullosa simplex (EBS), is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.[1]:598[2] Blister formation of EBS occurs at the dermoepidermal junction. Sometimes EBS is called epidermolytic.[citation needed] Cause Absence of keratin-5,14 since birth.[citation needed] Diagnosis Classification Epidermolysis bullosa simplex may be divided into multiple types:… read more »