Primary livedoid vasculopathy associated with mononeuritis multiplex.

A 40-year-old woman presented with painful ulcerations on the bilateral lower extremities. A biopsy confirmed the diagnosis of livedoid vasculopathy (LV). She was treated initially with aspirin and pentoxifylline, and with the addition of dipyridamole she has had no recurrence of her ulcerations to date. Despite this positive response to treatment she reported numbness and paresthesias in her legs. Nerve conduction studies confirmed a diagnosis of mononeuritis multiplex. This case highlights mononeuritis multiplex as a rarely described complication of LV, and suggests that early recognition of symptoms and a multidisciplinary approach are necessary for optimal management of this condition.

Menkes Disease Mimicking Child Abuse.

Althouygh Menkes disease has well-recognized neurologic, developmental, and cutaneous features, the initial presentation may resemble child abuse. We describe a 5-month-old boy with multiple fractures indicative of nonaccidental trauma who was ultimately diagnosed with Menkes disease. Copper deficiency leads to connective tissue abnormalities and may result in subdural hematomas, wormian bones, cervical spine defects, rib fractures, and spurring of the long bone metaphyses. Several of these findings, including fractures and subdural hematomas, may be misinterpreted as child abuse.

Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis.

We report a case of Noonan syndrome with loose anagen hair (NS/LAH), a rare variant of Noonan syndrome, with associated trichorrhexis nodosa and trichoptilosis. The SHOC2 mutation may be responsible for these additional hair shaft defects, revealing the importance of microscopic examination of hairs in these patients.