Biomedical subjects
Publications and source records attributed to Neil S Prose.
We report the case of a male infant with incontinentia pigmenti (MIM 308310) and low-grade XXY mosaicism. Fluorescence in situ hybridization may reveal the underlying genetic alteration in male patients with incontinentia pigmenti and a normal karyotype.
PURPOSE OF REVIEW: Bacillus Calmette-Guerin (BCG) vaccination has been performed since 1921, and remains the best method of preventing severe infections caused by Mycobacterium tuberculosis. Tuberculosis, in its various forms, remains a public health problem, and more than 100 countries continue BCG vaccination in an effort to control the disease. Since the initiation of BCG vaccination, numerous complications have been reported. In this review we will focus on the cutaneous complications of BCG vaccination. RECENT FINDINGS: Recent case reports detail the development of large keloids, and also of juvenile sarcoidosis after BCG vaccination. Adverse outcomes from inadvertent intradermal injection of the forearm and from revaccination with BCG have also been reported. Other recently described skin complications subsequent to BCG vaccination include lupus vulgaris, delayed granuloma formation, cutaneous BCG infection in immune disorders, anterior chest wall mass, acute erythroderma with multiple skin abscesses, ulceration at the BCG site during Kawasaki disease, fixed drug eruption, and cutaneous abscesses following mesotherapy. SUMMARY: BCG vaccination will continue to be a key method of preventing severe tuberculosis infections for the foreseeable future. The World Health Organization currently recommends BCG vaccination for all infants living in tuberculosis endemic areas. As such, it is important for health care providers to recognize the routinely anticipated cutaneous findings of the vaccination, in addition to complications relating to the injection. Subsequent care of these skin complications is of paramount importance to the health of these patients.
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Congenital cutaneous candidiasis (CCC) is usually a benign condition characterized by various skin manifestations and is rarely associated with nail changes. We report a premature infant with CCC who developed dystrophy of all 20 nails at about 1 month of age. Nail dystrophy due to Candida albicans in the young infant may be differentiated from other congenital or hereditary nail malformations by appearance, recovery of the organism in nail culture, and complete resolution over a period of several months.
PURPOSE: Kasabach-Merritt phenomenon (KMP) is characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, a consumptive coagulopathy, and an enlarging vascular lesion. The syndrome develops in infancy and is associated with a high morbidity and mortality rate. The purpose of this study was to assess the effectiveness of vincristine in the treatment of KMP. METHODS: We retrospectively reviewed the clinical and laboratory data of 15 patients with KMP treated with vincristine at 9 institutions across the United States, South America, and Europe. RESULTS: All 15 patients had profound thrombocytopenia and consumption of fibrinogen at presentation. Ten patients had biopsies of their lesions, and results included five (33.3%) kaposiform hemangioendotheliomas, three (20%) tufted angiomas, one lesion (6.7%) with features of both kaposiform hemangioendothelioma and tufted angioma, and one (6.7%) unclassified vascular tumor. All 15 patients had an increase in platelet count of at least 20,000 with an average response time of 4.0 weeks after initiation of vincristine therapy. Thirteen patients had an increase in fibrinogen level of 50 mg/dL with an average response time of 3.4 weeks. In 13 patients there was a significant decrease in the size of the vascular lesion. The average duration of treatment was 21.5 (+/-12.6) weeks. Four patients (26%) relapsed. All four were successfully treated with a second course of vincristine. Complications included one patient with abdominal pain, one patient with transient loss of deep tendon reflexes, and one patient with irritability. CONCLUSION: Vincristine presents a safe and sometimes effective treatment option in the management of KMP.
Precalcaneal congenital fibrolipomatous hamartomas are uncommon, congenital, nontender papules located on the medial plantar aspects of the heel. We report the occurrence of this rare disorder in two half brothers, suggesting that it may occur in a familial pattern.
Pemphigus vulgaris is an uncommon autoimmune blistering skin disorder that is particularly rare in children. Immunosuppressive treatment can be challenging. Rituximab (anti-CD20 monoclonal antibody) has been used to treat autoimmune disorders by depletion of CD20 B cells. Successful rituximab therapy has been reported in adults with refractory pemphigus vulgaris. We present a girl with childhood pemphigus vulgaris unresponsive to treatment with azathioprine, mycophenolate mofetil, plasmapheresis, and intravenous immunoglobulin with systemic prednisone who responded to treatment with rituximab. She had a corresponding decline in circulating antibodies against desmoglein 1 and 3 and a decline in diphtheria and tetanus-specific antibody titers.
The incidence of skin disease secondary to infestation with the human bedbug, Cimex lectularius, has increased dramatically in the United States and in the United Kingdom. We describe a child with a recurrent pruritic eruption of urticarial, erythematous papules on the face, neck, and extremities. The etiology of her cutaneous lesions was discovered to be a bedbug infestation in the home. The epidemiology, entomology, presentation, and treatment of bedbugs and their bites are discussed.