Metaphyseal chondrodysplasia- others
Overview
McKusick type metaphyseal chondrodysplasia: A rare genetic disorder characterized by short stature, skeletal abnormalities and fine, fragile hair.
Symptoms
Short limbs Long trunk Short stature Decreased pubertal growth spurt Absent pubertal growth spurt
Causes
Alopecia areata Alopecia areata is usually marked by well-circumscribed patches of nonscarring hair loss on the scalp without skin changes. Occasionally, the patches also appear on the beard, axillae, pubic area, arms, legs, or the entire body (alopecia universalis). “Exclamation point” hairs—loose hairs with rough, brushlike tips on narrow, less-pigmented shafts—typically border expanding patches of alopecia. Although this disorder is recurrent, hair growth usually returns after several months. In about 20% of patients, alopecia areata also causes horizontal or vertical nail pitting. TopArsenic poisoning Most common in chronic poisoning, alopecia is diffuse and mainly affects the scalp. Related signs and symptoms include muscle weakness and wasting, areflexia, partial or total vision loss, and bronze skin. TopArterial insufficiency Patchy alopecia occurs in arterial insufficiency, typically on the lower extremities, and is accompanied by thin, shiny, atrophic skin and thickened nails. The skin turns pale when the patient’s legs are elevated and dusky when they’re dependent. Associated findings include weak or absent peripheral pulses, cool extremities, paresthesia, leg ulcers, and intermittent claudication. TopBurns Full-thickness or third-degree burns completely destroy the dermis and epidermis, leaving translucent, charred, or ulcerated skin. Scarring or keloid formation associated with these burns causes permanent alopecia.
Treatment
There is no known treatment at present, although some investigators have tried to lessen the hypercalcemia with various forms of bisphosphonates