Fibromatosis multiple non ossifying
Overview
Fibromatosis multiple non ossifying: A very rare syndrome characterized mainly by bone abnormalities which causes the bones to fracture easily.
Symptoms
* Cafe-au-lait spot * Fractures * Undescended testes * Heart defect * Delayed puberty
Causes
Albright’s syndrome In Albright’s syndrome, café-au-lait spots are smaller (about ⅜” [1 cm] in diameter) and more irregularly shaped than those in neurofibromatosis. They may stop abruptly at the midline and seem to follow a dermatomal distribution. Usually, fewer than six spots appear, unilaterally on the forehead, neck, and lower back. When they occur on the scalp, the hair overlying them may be more deeply pigmented. Associated signs include skeletal deformities, frequent fractures and, in females, sexual precocity. Neurofibromatosis The most common cause of café-au-lait spots, this disorder (also called von Recklinghausen’s disease) is characterized by six or more large, smooth-bordered spots up to ¼” (6.4 mm) in diameter in prepubertal children and more than ⅝” (15 mm) in diameter in postpubertal children. Associated signs include axillary and inguinal freckling; irregular, hyperpigmented, and mottled skin; and multiple skin-colored pedunculated nodules clustered along nerve sheaths. The nodules develop during childhood, growing larger than ¼”. They proliferate throughout life, affecting all body tissues and causing marked deformity. They grow to ⅝” or larger in adults. Mental impairment, seizures, hearing loss, exophthalmos, decreased visual acuity, and GI bleeding can eventually occur. Tuberous sclerosis Mental retardation and seizures characteristically appear first, followed several years later by cutaneous facial lesions—multiple café-au-lait spots, spherical areas of rough skin, and areas of yellow-red or depigmented nevi.