Genital cutaneous Crohn disease: two cases with unusual clinical and histopathologic features in young men.

Cutaneous Crohn disease, sometimes called metastatic Crohn disease or Crohn disease with cutaneous involvement, is a rare complication of Crohn disease in which granulomatous lesions involve skin separated from gastrointestinal lesions by normal tissue. We report two cases of cutaneous Crohn disease presenting in young males with erythematous, nontender swelling of the scrotum. One of the young males presented erythematous, nontender swelling of the penis as well. In one case, cutaneous Crohn disease represented the primary presentation. The original biopsy in this case showed unusual areas of degeneration of dermal connective tissue forming cystic cavities. The diagnostic biopsies in both cases showed sarcoidal granulomas with an associated superficial and deep perivascular mixed infiltrate including eosinophils. On endoscopy, both patients showed lesions of active Crohn disease in the colon. Because changes that would suggest cutaneous Crohn disease may not be present on the initial biopsy, unusual presentations and negative cultures may warrant a second biopsy. A high index of suspicion and open communication with the clinician are essential to diagnose this disease.

Subcutaneous phaeohyphomycosis and nocardiosis in a kidney transplant patient.

Phaeohyphomycosis and nocardiosis are uncommon infections that are more frequently reported in immunocompromised patients. To our knowledge, this is the first report of subcutaneous phaeohyphomycosis caused by Exophiala jeanselmei in association with systemic infection with Nocardia asteroides. The patient's phaeohyphomycosis responded to surgical excision and multi-drug therapy, and the patient underwent prolonged therapy with trimethoprim/sulfamethoxazole for treatment of the nocardiosis.

A case of Bloom syndrome with conjunctival telangiectasia.

Bloom syndrome is a rare genodermatosis characterized by photosensitivity, telangiectasias, growth retardation and malignancies. Eye findings have rarely been mentioned in case reports of this syndrome. We report a child with Bloom syndrome who had pronounced bulbar conjunctival telangiectasia originally diagnosed as episcleritis. Bulbar telangiectasia are frequently described in other genodermatoses such as ataxia telangiectasia and hereditary hemorrhagic telangiectasia, but are infrequently noted in Bloom syndrome. Previously described eye findings in Bloom syndrome are reviewed and the differential diagnosis of bulbar telangiectasia is discussed.

Multiple cutaneous granular cell tumors in a child with possible neurofibromatosis.

A 4-year-old girl with possible neurofibromatosis I had multiple subcutaneous nodules. On histopathologic examination, these nodules were diagnosed as multiple cutaneous granular cell tumors. An association between these tumors and neurofibromatosis I has been suggested because of their common neuroectodermal origin. We review cases of multiple cutaneous granular cell tumors in association with neurofibromatosis I in childhood.

Bullous mastocytosis in an infant associated with the use of a nonprescription cough suppressant.

Bullous mastocytosis is an unusual expression of mastocytosis typically seen in young children, and many causes of the acute mast cell degranulation with bulla formation have been identified. We report a 6-month-old boy with urticaria pigmentosa and an extensive bullous eruption associated with the ingestion of a nonprescription cough suppressant containing dextromethorphan. The pathogenesis of mastocytosis and the care of patients with this disease are discussed.

Developmental neural abnormalities and seizures in epidermal nevus syndrome.

The epidermal nevus syndrome (ENS) is an unusual neurocutaneous disorder consisting of the combination of an epidermal nevus and a central nervous system (CNS), ophthalmological, and/or skeletal abnormality. The study reports four new patients with ENS. Each had a confirmatory biopsy of the epidermal nevus, abnormal neurological examination findings, and documented CNS anatomical studies by imaging or autopsy. The paper also reviews the literature in English to determine neurological abnormalities found in skin-biopsy-proven cases of ENS. Hemi-atrophy, hemimegalencephaly, migrational abnormalities and vascular anomalies were found to be the most frequent intracranial abnormalities associated with ENS. Seizures and/or disabling moderate to severe developmental delays were present in a majority of patients. Seizure onset during the neonatal period or early infancy was associated with major hemispheric malformations. Neuroectodermal-derived ocular lesions were often bilateral. No consistent relation between laterality of the nevus and laterality of CNS abnormalities was found, supporting the gene mosaicism theory of pathogenesis.

Disseminated Mycobacterium scrofulaceum infection: a potentially treatable complication of AIDS.

Disseminated Mycobacterium scrofulaceum infection has rarely been reported (only 8 cases to date), and no case of infection associated with AIDS has been reported in detail. We report a case of disseminated M. scrofulaceum infection in an AIDS patient that presented as chronic ulcerative and nodular skin lesions with probable cavitary lung involvement. We discuss reported cases of dissminated M. scrofulaceum infection and features of human immunodeficiency virus (HIV)-associated disease due to mycobacteria other than tuberculosis. Although our patient died before susceptibility testing could be completed, the M. scrofulaceum isolate was found to be susceptible to clarithromycin, ethambutol, and clofazimine. Physicians who evaluate skin lesions in HIV-infected persons should perform appropriate mycobacterial studies and search for disseminated disease. Drug susceptibility testing for mycobacteria other than tuberculosis is not yet standardized, but the broth dilution method, currently being studied in clinical trials of treatment for Mycobacterium avium complex, may be superior to older methods. After the possibility of Mycobacterium tuberculosis infection has been excluded, physicians should consider administering initial empirical therapy with two or more drugs, including a newer macrolide, to AIDS patients with disseminated mycobacterial disease.

Alopecia areata in childhood.

Aproximately 1% of the population will have had alopecia areata by the age of 50 and the peak incidence occurs in children and young adults. All body hair may be affected including lashes and brows. Alopecia areata is a systemic disease with frequent involvement of nails or eyes. Alopecia areata has been associated with atopic dermatitis, autoimmune disease, vitiligo, and endocrine disease. The pathogenesis is unclear. There is no excellent therapy for alopecia areata although many interventions are tried. Immunotherapy with diphenylcyprone is currently being optimistically evaluated. The harmful psychological effects of alopecia areata in children must be anticipated and prevented.

Incontinentia pigmenti: three cases with unusual features.

Three patients with incontinentia pigmenti are described who illustrate some of the unusual features of this uncommon genodermatosis. One child with skin, ophthalmologic, and dental findings had atrophic, hypopigmented streaks on her legs by the age of 2 1/2 years that were consistent with the fourth stage of incontinentia pigmenti. This child's mother, who also had incontinentia pigmenti, had identical atrophic streaks on the legs, as well as irregular axillary pigmentation, scarring alopecia, and dental abnormalities. A second child is described who had annular blisters, persistent verrucous plaques, whorled hyperpigmentation, and dental abnormalities.

Neurologic disease in a child with hepatoerythropoietic porphyria.

Hepatoerythropoietic porphyria (HEP) is a rare, autosomal recessive disorder due to deficient uroporphyrinogen decarboxylase enzyme activity. Patients exhibit photosensitivity, red urine, hypertrichosis, and characteristic serum and urine porphyrin profiles. Two siblings had the classic clinical and biochemical findings of HEP. The older patient developed a left-sided hemiparesis accompanied by an abnormal brain magnetic resonance imaging study. Although central nervous system abnormalities are a common feature of other hepatic porphyrias, they have not been previously documented in association with HEP.

Vesiculopustular diseases of neonates and infants.

Vesiculopustular diseases of neonates and infants can be divided into infectious and noninfectious categories. Recent clinical and scientific literature has focused mainly on the infectious diseases and on epidermolysis bullosa. This review covers the following disorders: neonatal sepsis, staphylococcal scaled skin syndrome, neonatal herpes simplex, neonatal varicella, congenital syphilis, scabies, mastocytosis, incontinentia pigmenti, eosinophilic pustular folliculitis, and epidermolysis bullosa.

Familial lichen sclerosus et atrophicus in childhood.

Lichen sclerosus et atrophicus (LSA) is uncommonly reported in family members and is seen occasionally in young children. We report genital LSA in two young sisters who were diagnosed a year apart. The English language literature on familial LSA in childhood is reviewed and discussed.

Infantile systemic hyalinosis in a black infant.

A black girl was born with flexion contractures and experienced pain on movement by 1 week of age. She subsequently developed perioral papules, gingival hyperplasia, perianal nodules, torticollis, diarrhea, rectal prolapse, and inability to open her mouth. Her skin became increasingly sclerodermatous, and velvety, hyperpigmented plaques arose over bony prominences. A skin biopsy specimen showed hyaline material in the papillary dermis with lack of elastic fibers. Ultrastructural examination revealed fibrillogranular material around fibroblasts and blood vessels. This child had the clinical, histologic, and ultrastructural features of infantile systemic hyalinosis. This disorder has not been described in a black infant. Previous case reports of infantile systemic hyalinosis are reviewed and unusual features of our case are discussed.