Peeling skin syndrome: a clinical., ultrastructural and biochemical study

A case of 'peeling skin syndrome' is reported. We have demonstrated a hitherto unreported keratohyalin abnormality and a four-fold increase of cellular retinoic acid binding protein, in one of two biopsies from an erythematous, scaling lesion.     

Localized peeling skin syndrome: case report with ultrastructural study

We report a young woman in whom the history, clinical features, histopathological and ultrastructural findings led to a diagnosis of peeling skin syndrome (PSS). PSS is a rare and not well classified genodermatosis, mainly characterized by the spontaneous separation of the stratum corneum from the stratum granulosum. The unusual feature in our patient was the strict localization to the palm. PSS has been described as a more generalized disease frequently sparing palms and soles. We propose the diagnosis label of ‘localized PSS’ for this previously undescribed variant of a rare keratinization defect.     

Human psoriatic skin lesions improve with local hyperthermia: an ultrastructural study

Electron microscopy of psoriatic skin prior to and after local hyperthermia revealed both temporary and gradual changes following treatment. The former occurred almost simultaneously with initiation of hyperthermia, and were characterized by an intracellular edema, the aggregation of tonofibrils in the basal half of the epidermis and an amorphous substance in the epidermal interspaces. The latter occurred during the course of treatment and were represented by narrowing of the intercellular spaces, a decrease in the number of mitochondria and free ribosomes, and an increased number of desmosomes and tonofibrils, with a consequent increase of keratohyaline granules. No such abnormal cells and structures were found in this study, as were observed in PUVA therapy.     

一例Kindler综合征患者皮损超微结构及FERMT1基因突变分析

目的 检测1例Kindler综合征患者皮损超微结构改变以及FERMT1基因突变。方法 收集患者临床资料,取患处皮肤进行透射电镜检查明确其超微结构的变化。提取患者及其相关亲属外周血DNA,采用PCR扩增FERMT1基因编码区的全部外显子及其侧翼序列并测序。结果 患者皮损电镜检查显示致密板高度复制;基因检测发现患者FERMT1基因9号内含子剪切位点发生IVS9 + 1G > A纯合突变,父母为相应突变的杂合携带者,50例无关正常对照者未见该突变。结论 透射电镜可作为Kindler综合征患者确诊的辅助检查之一;FERMT1基因9号内含子剪切位点发生IVS9 + 1G > A纯合突变可能为引起该患者临床表现的病因。     

Specific skin lesions in a patient with Niemann-Pick disease

We report a patient with Niemann-Pick disease who developed papular lesions on the face. These showed ultrastructural findings typical of this disorder. Specific skin lesions such as these are an extremely rare manifestation of Niemann-Pick disease.     

疣状表皮发育不良少见皮损1例

报告１例疣状表皮发育不良少见皮损,患者女性,３６岁,躯干,四肢疣状皮疹不断增多２４年,出现褐色斑片１年,除扁平疣样和寻常疣样皮损外,出现类似连圈状糠秕疹和脂溢性角化样的皮损。     

Gemcitabine-induced erysipeloid skin lesions in a patient with malignant mesothelioma

Gemcitabine is a nucleoside analogue that has shown to have antineoplastic activity in different solid tumours (lung, pancreas, bladder, colon, ovarian, and breast cancer) and malignant mesothelioma. The toxic effects of gemcitabine include myelosuppression, flu-like syndrome, altered liver function tests, bronchospasm, rash, itching, and fever. However, gemcitabine-induced erysipeloid skin reaction was reported in a small number of patients with previous history of radiotherapy or lymphedema. We reported a male patient who developed erysipeloid skin reaction following gemcitabine treatment in the absence of radiotherapy and lymphedema.     

Specific skin lesions occurring in a patient with Hodgkin's lymphoma

A 47-year-old man presented with a several month history of non-specific acquired ichthyosis, an unknown period of generalized lymphadenopathy and a short history of erythematous papules and nodules affecting the cutaneous drainage area of his right axillary lymph nodes. Histology confirmed these lesions to be specific lesions of Hodgkin's lymphoma; that is, metastatic retrograde lymphatic spread from his axillary lymph nodes of CD30+, CD15+, Reed-Sternberg cells as well as mononuclear Hodgkin's cells. This is the most common site and mode of spread of Hodgkin's disease to the skin. As is typical of advanced Hodgkin's disease, as evidenced by specific cutaneous involvement, this patient died shortly after definitive diagnosis was made.     

Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome

Ectodermal dysplasia/skin fragility syndrome (EDSFS) (MIM604536) is a newly described autosomal recessive disorder characterized by skin fragility and blistering, palmoplantar keratoderma, abnormal hair growth, nail dystrophy, and occasionally defective sweating. It results from mutations in the PKP1 gene encoding plakophilin 1 (PKP1), which is an important component of stratifying epithelial desmosomes and a nuclear component of many cell types. Our study was performed to further characterize the histopathology of EDSFS in different cutaneous sites with a special emphasis on the hypotrichosis and keratoderma. A total of 4 biopsies were obtained from 2 EDSFS female patients, aged 9 days to 4 years. The biopsies were taken from the blistering skin of the leg and trunk, the hyperkeratotic skin of the sole, and the hypotrichotic scalp. The observed histopathologic features included: widened intercellular spaces, suprabasal intraepidermal clefts and blisters with acantholytic keratinocytes, detachments of the upper epidermal layers due to disadhesion, varying degrees of dyskeratosis that were much more pronounced in the plantar hyperkeratotic skin, and increased number of catagen-telogen hair follicles. The electron-microscopic observations attributed the disadhesion and acantholysis to reduced numbers of small hypoplastic desmosomes, and the dyskeratosis to the detachment of intracellular keratin filaments from the desmosomes with perinuclear condensation, which might also underlie the plantar keratoderma. The hair follicle findings suggest disturbance in the hair cycle, which might be attributed to disturbed nuclear PKP1 function or result from aberrant desmosomal signaling.     

Histopathologic and ultrastructural findings in certain genodermatoses

Skin histology and ultrastructure have become diagnostically crucial in relatively few genetic diseases with major or prominent skin manifestations. In some diseases, these morphologic evaluations have increased our understanding of the disease process and provided a basis for interpretation of biochemical and physiologic studies. This review aims at illustrating some of the prominent accomplishments of histologic and, especially, ultrastructural studies in selected genetic diseases. The most widely studied disease group is the epidermolysis bullosa group in which histology and ultrastructure have provided the basis for currently used classifications of the diseases within the group.^1,2 The histologic and ultrastructural findings have also suggested hypotheses concerning the nature of the primary defects in several of these diseases, thus focusing investigations at the physiologic and/or biochemical level. The ichthyoses have been a disappointment from a histologic and ultrastructural point of view, with the exception of epidermolytic hyperkeratosis, in which striking alterations have been noted, although they have yet to lead to a clearer understanding of the nature of the primary defect in the disease.     

Carpal tunnel syndrome with ulcerous skin lesions

We report on a patient suffering from an advanced stage of carpal tunnel syndrome (CTS) with entire loss of cutaneous sensibility and impaired motor function who developed ulcerous skin lesions. In the present case, we would like to focus the attention of the dermatologist on CTS, when skin changes, i.e. atrophy, anhidrosis and ulcerations are found in the sensory zones of the median nerve. The necessity to explore a potential trauma is stressed.     

Exacerbation of skin lesions during fever in a patient with chronic infantile neurologic cutaneous articular (CINCA) syndrome

Chronic infantile neurologic cutaneous articular (CINCA) syndrome is a serious chronic systemic inflammatory disease that presents at a young age and that is characterized by skin, joint, and central nervous system disease. Skin symptoms are the first to appear, in the form of a longstanding nonpruritic urticarial rash, with exacerbations coinciding with episodes of fever, arthritis, and enlarged lymph nodes. The findings of biopsy of skin lesions are extremely variable but characterized by perivascular neutrophilic infiltrate. With the discovery of mutations in the CIAS1 gene, which encodes a protein known as cryopyrin, this entity has been classified as one of the cryopyrin-associated autoinflammatory diseases, along with familial cold urticaria and Muckle-Wells syndrome. This discovery has also made available new therapeutic options. We present the case of a boy diagnosed with CINCA syndrome who presented with an outbreak of painful skin lesions and fever. These lesions were thought to be an exacerbation of underlying lesions during an episode of fever.