Seminars in dermatology最新文献

A clinical entity called "the epidermal nevus syndrome" does not exist. Rather, there are various epidermal nevus syndromes that can be distinguished by clinical, histopathological, and genetic criteria. In this review, five distinct epidermal nevus syndromes, recognizable by different types of associated epithelial nevi, are described. The Schimmelpenning syndrome is characterized by a sebaceous nevus associated with cerebral anomalies, coloboma, and lipodermoid of the conjunctiva. By contrast, cataracts are a prominent feature of the nevus comedonicus syndrome. The pigmented hairy epidermal nevus syndrome includes Becker nevus, ipsilateral hypoplasia of the breast, and skeletal defects such as scoliosis. In the Proteus syndrome, the associated epidermal nevus is of a flat, velvety, nonorganoid type. The CHILD syndrome occurs almost exclusively in girls. The associated CHILD nevus shows unique features such as a diffuse form of lateralization, ptychotropism, and microscopic changes of verruciform xanthoma. The five epidermal nevus syndromes differ in their genetic basis. The Schimmelpenning and nevus comedonicus syndromes are most likely nonhereditary traits. By contrast, the pigmented hairy epidermal nevus syndrome and the Proteus syndrome may be explained by paradominant inheritance. The CHILD syndrome is caused by an X-linked dominant mutation exerting a lethal effect on male embryos. A correct diagnosis of these phenotypes is important for both recognition and treatment of associated anomalies as well as for genetic counseling.

The original TORCH complex described clinically similar congenital infections caused by Toxoplasma gondii, rubella virus, cytomegalovirus, and herpes simplex virus, types 1 and 2. Cutaneous manifestations, including petechiae, purpura, jaundice, and dermal erythropoiesis, are commonly seen in toxoplasmosis, rubella, and cytomegalovirus infections. In herpes simplex virus infections, 80% of symptomatic infants show single or grouped cutaneous vesicles, oral ulcers, or conjunctivitis. Extracutaneous signs and symptoms are variable and can be severe. Significant clinical signs in congenital toxoplasmosis include diffuse intracerebral calcification, chorioretinitis, and microcephaly; congenital rubella can result in deafness, congenital heart disease, retinopathy, and brain calcification. Cytomegalic inclusion disease can include hepatomegaly, splenomegaly, paraventricular calcification, and intrauterine growth retardation. Localized or disseminated congenital herpes virus infection often involves the central nervous system and the eye. Diagnosis is confirmed by culture and identification of species-specific immunoglobulin M within the first 2 weeks of life. Histological examination contributes to the diagnosis in herpes simplex virus infection. Treatment for toxoplasmosis includes pyrimethamine with sulfadiazine or trisulfapyrimidine; congenital herpes simplex virus infection is treated with acyclovir. No specific therapy for congenital rubella or cytomegalovirus infections has been established, and so treatment is primarily supportive.

The complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas (the Carney complex) is a multisystem tumorous disorder that is transmitted as a mendelian autosomal dominant trait. Approximately 150 affected patients are known worldwide. The myxomas, which tend to be multiple in the involved organ, affect the heart, skin and breast. Typical sites for the skin myxomas are the eyelids, external ear canal, and nipples. The lesions commonly recur after excision. The spotty skin pigmentation includes lentigines and blue nevi, but ephelides and junctional and compound nevi also occur. The lentigines are widespread and typically involve the centrofacial area, including the vermilion border of the lips, and the conjunctiva, especially the lacrimal caruncle and the conjunctival semilunar fold. One or more intraoral pigmented spots are seen occasionally. The blue nevi occur on the face, trunk, and limbs, but not the hands and feet. Endocrine overactivity includes Cushing's syndrome (caused by primary pigmented nodular adrenocortical disease), acromegaly (caused by growth hormone-producing pituitary adenoma), and sexual precocity (caused by large-cell calcifying Sertoli cell tumor). The schwannomas are a special histological type, featuring psammoma bodies and melanin. Most commonly, they affect the upper gastrointestinal tract and sympathetic nerve chains, but a few have occurred in the skin. The most serious component of the Carney complex is cardiac myxoma. Patients suspected of having the syndrome (and their primary relatives) should be examined for this neoplasm.

The hypereosinophilic syndrome is a multisystem syndrome characterized by peripheral blood eosinophilia and eosinophil infiltration of bone marrow, heart, and other organs. The syndrome is associated with cardiac, hematological, pulmonary, neurological, and cutaneous involvement and, if untreated, has a high fatality rate. Criteria for the diagnosis of hypereosinophilic syndrome include (1) peripheral blood eosinophilia with eosinophil counts greater than 1,500/microL for at least 6 months; (2) no evidence of parasitic, allergic, or other known causes of eosinophilia; and (3) presumptive signs and symptoms of multiple organ involvement. Cutaneous manifestations occur commonly but are not diagnostic either clinically or histologically, although the presence of angioedema is a favorable prognostic sign. Because eosinophils are thought to mediate important pathogenic effects, treatment is aimed at controlling peripheral blood eosinophilia.

Sweet, in 1964, described a skin condition characterized by fever, leukocytosis, tender erythematous plaques, and, histopathologically, a predominantly neutrophilic dermal inflammation. However, other dermatologic conditions can present with similar clinical and histological features. Therefore, diagnostic criteria are important for the correct diagnosis. Use of systemic steroids is the treatment of choice for Sweet syndrome. A number of other medications can be useful at times, such as potassium iodide, dapsone, indomethacin, and colchicine.

The principal features of POEMS syndrome are osteosclerotic bone lesions, peripheral sensorimotor neuropathy, and elevated levels of a monoclonal protein in the serum or urine. Skin lesions are present in the majority of patients with POEMS syndrome. Diffuse hyperpigmentation is the most common cutaneous finding. Hemangiomas with histopathological features resembling renal glomeruli are the most specific skin lesions.

Skin diseases in black children differ because of pigment lability, fibroblastic activity, and folliular predominance. Normal findings may include Futcher's or Voight's line, linea alba, Mongolian spot, and pigmentation of the mucous membranes and nails. Disorders that are more frequent in black children are transient neonatal pustular melanosis, infantile acropustulosis, tinea capitis, pomade acne, traction alopecia, and proximal trichorrhexis nodosa. Disorders that vary in appearance but not incidence include pityriasis alba, vitiligo, and alopecia areata. A knowledge of this helps in the treatment of the black child with a skin disorder.

Porphyria in childhood is an uncommon problem but the recognition of these disorders is vitally important for affected children. Of the cutaneous porphyrias, erythropoietic protoporphyria, congenital erythropoietic porphyria, hepatoerythropoietic porphyria, and the hereditary form of porphyria cutanea tarda (PCT) can present in infancy or childhood. This article focuses on the porphyrias that present in infants and children along with a brief discussion of pathogenesis, cutaneous histopathology, and genetics of these metabolic disorders.

Topical steroids have been used with great success since the early 1950s. Knowledge of the mode of action, development of tests of potency, and manipulation of side chains have added to our understanding of these agents. Vehicles influence their rate of absorption. In the last three decades, topical and systemic side effects have been recognized with their inappropriate use. These side effects are seldom seen in children and should not preclude the correct use of topical steroids in inflammatory disorders of the skin, particularly atopic dermatitis.