Seminars in dermatology最新文献

Malignant atrophic papulosis is a rare disorder characterized by pathognomonic cutaneous lesions that have been associated with multiple infarctive thrombotic lesions of other viscera, most notably the gastrointestinal tract and the central nervous system. Systemic involvement may develop from weeks to years after the onset of the characteristic cutaneous lesions or, rarely, may precede the cutaneous lesions. However, the existence of patients with a prolonged, purely cutaneous variant of this disease has been increasingly appreciated, and this brings into question the appropriateness of applying the term "malignant" to all patients who have the peculiar characteristic cutaneous lesions of malignant atrophic papulosis. Despite half a century of sporadic investigation, the precise cause of this disease remains unknown, and accurate classification of this entity as a primary vasculopathy or primary coagulopathy has not been possible. Unfortunately, no effective therapy exists for those patients in whom systemic involvement develops.

This article focuses on the current state of knowledge concerning the characterization and classification of palmoplantar keratoderma and associated syndromes. In addition, therapeutic options are discussed. Exact diagnosis enables dermatologists to give patients accurate genetic counseling and may help to detect underlying defects or proneness to cancer. Furthermore, precise classification of this disease facilitates the use of the most efficient therapeutic modalities. Important criteria for the classification of palmoplantar keratoderma are the mode of transmission, age at onset, and distribution of the keratoderma. The disorder may be diffuse or focal; it may be restricted to the palms and soles or also involve the dorsal aspects of the hands and feet. Psoriatic-like lesions in other parts of the body may occur in certain variants. The association of other signs and symptoms may provide diagnostic clues. Ultrastructural investigation will show diagnostic features in some types of palmoplantar keratoderma, and biochemical analysis may be helpful in the classification of keratoderma. In the future, the most accurate diagnosis will be the identification of the genetic defect and its chromosomal localization.

We recently identified a syndrome of recurrent cutaneous eosinophilic vasculitis in three patients. These patients had in common widespread pruritic, erythematous, purpuric papules and angioedema of face and hands associated with peripheral blood eosinophilia. Eight skin biopsies from these three patients all showed necrotizing vasculitis of the small vessels of the skin, with exclusively eosinophilic infiltration and minimal or no leukocytoclasis. The disease followed a chronic course, with recurrent, itchy, swelling skin lesions and without evidence of systemic involvement over observation periods of 3, 17, and 23 years. The skin lesions responded promptly to systemic steroid treatment, but two patients required maintenance doses for control of the disease. Immunofluorescence studies showed marked deposition of the cytotoxic eosinophil granule major basic protein in the affected vessel walls. Eosinophil-active cytokine IL-5 was detected in the serum of one patient. Expression of the vascular cell adhesion molecule-1 for eosinophil adherence was detected on the endothelium of the affected vessels. Because this disease showed distinctive clinical manifestations and characteristic histopathological features, we believe it is a distinct entity and should be distinguished from other types of vasculitis.

Sneddon syndrome--cerebrovascular lesions and livedo racemosa--is a distinctive and uncommon disorder delineated by Sneddon in 1965. The clinical hallmarks are generalized livedo racemosa and central nervous system ischemia. Cutaneous vascular changes begin with intimal endothelial proliferation and fibromucinous matrix formation, leading to obstruction and obliteration of the vessel. The disorder is slowly progressive. No effective treatment is available, but platelet-inhibiting agents or newer antithrombotic agents may offer some hope in preventing or minimizing serious sequelae of this disease.

The focus of this article is acrokeratosis paraneoplastica, one of two disorders that have acquired the eponym Bazex syndrome. To date, all of the patients reported in the literature have had an underlying neoplasm, most commonly squamous cell carcinoma of the upper aerodigestive tract. In this review of 113 cases of acrokeratosis paraneoplastica (mean age, 61 years; 105 males, 8 females), the psoriasiform lesions preceded the diagnosis of the associated malignancy in 73 (67%) of 109 patients, whereas the cutaneous manifestations followed the diagnosis of the neoplasm in only 16 (15%) of 109; in the remainder, the onset of the skin lesions and the diagnosis of the tumor occurred simultaneously. Therefore, awareness of the cutaneous signs of Bazex syndrome is of obvious importance to dermatologists. Evidence in favor of the paraneoplastic nature of this disease is as follows: in 81 (93%) of 87 patients with adequate clinical descriptions, the skin lesions either improved significantly (or resolved) when the underlying neoplasm was treated or they remained unchanged in the setting of persistent disease. Occasionally, the reappearance of skin lesions has signaled a recurrence of the tumor.

Pachyonychia congenita is an uncommon autosomal dominant disorder with variable expression. Symmetrical nail hypertrophy, present in nearly all cases, is accompanied by dyskeratosis and dysplasia of other ectodermal tissues. This article reviews the genetics, clinical manifestations, histopathology, and treatment of pachyonychia congenita. Many clinical features have been reported in association with this syndrome. From a review of the literature, we propose criteria for the diagnosis of pachyonychia congenita using the more important of these clinical manifestations.

Nine cases of Olmsted syndrome have been reported in the world literature. In this syndrome, keratoderma usually starts during infancy on the palms and soles when the baby starts to use the feet for walking and the hands for grasping. Within weeks or months, there is progressive spread of solid, symmetrical, thick hyperkeratotic keratoderma to both palms and soles, surrounded by erythematous margins. Contraction of fingers and deep fissuring of the feet are common complications. Symmetrical, yellow-brown hyperkeratotic plaques and papules are also observed around body orifices such as the mouth, nares, inguinal region, and perianal and gluteal areas. Other clinical manifestations have been reported, including diffuse alopecia, thin nails, leukokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, exaggerated keratosis pilaris, and large verrucous plaques in the axillae. In the differential diagnosis, other keratoderma and hyperkeratotic syndromes should be considered.

Melkersson-Rosenthal syndrome is a triad of recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue. However, the classic triad is not frequently seen in its complete form. Monosymptomatic and oligosymptomatic forms are more common. The histological findings of sarcoid-like granuloma in skin or mucosal biopsy specimens support the diagnosis. The course is chronic but benign. Treatment is difficult, but intralesional or systemic corticosteroids may be helpful.

The Noonan syndrome is a rare disease characterized by dysmorphic facies, short stature, ear abnormalities, cryptorchidism, ocular abnormalities, cardiovascular anomalies, cubitus valgus, webbed neck, and cutaneous and hair abnormalities. Some 25% to 40% of patients have dermatologic abnormalities. Diagnosis is purely clinical, and intrauterine diagnosis is very important based on the presence of cystic hygroma and evidence of myocardial abnormalities. Treatment is symptomatic. Genetic counseling is necessary.