Large plaque-like glomuvenous malformation (glomangioma) simulating venous malformation

Glomuvenous malformations and venous malformations are vascular lesions that can be distinguished on the basis of clinical and pathological features. A vascular lesion of the skin and superficial and deep soft tissues of a lower limb in a 5-year-old child is described. The clinical and radiological features, including skeletal muscle involvement, were typical of venous malformation, whereas the histopathological features were those of a glomuvenous malformation. The clinical and histopathological features are briefly discussed.     

Pigmented Hypertrichotic Dermatosis and Insulin Dependent Diabetes: Manifestations of a Unique Genetic Disorder?

A novel pigmented dermatosis was observed in four unrelated boys, three of whom had insulin-dependent diabetes. Three patients were the offspring of consanguineous parents. All four boys had pigmented hypertrichotic patches or induration on the upper inner thighs, with variable involvement of the genitalia, trunk, and limbs. Two boys had episcleritis and orbital proptosis with similar facies and musculoskeletal abnormalities including clinodactyly, flat feet, and short stature. One child had paraaortic and inguinal lymphadenopathy and three patients had an enlarged liver and spleen. A large, swollen pancreas was observed on ultrasound imaging in one patient with insulin dependent diabetes who also had echocardiographic evidence of pericardial inflammation. Three boys had elevated laboratory markers of inflammation. Biopsy specimens from the skin and orbit showed a chronic inflammatory cell infiltrate composed of polyclonal lymphocytes, histiocytes, and plasma cells; fibrosis was observed in two patients, one of whom had previously received radiation therapy to the orbit. Two boys responded to treatment with subcutaneous interferon-alpha, combined with a short course of oral prednisone in the child without diabetes. We believe these inflammatory pigmented skin lesions represent a unique dermatosis associated with diabetes mellitus and systemic disease. The pathogenesis is unknown. The presence of consanguinity in three of four families, and similar dysmorphic features in two boys, suggest a genetic disorder, possibly with autosomal recessive inheritance.     

Childhood localized vulvar pemphigoid is a true variant of bullous pemphigoid.

BACKGROUND--Childhood localized vulvar pemphigoid has been recently reported in four girls. A fifth child with this proposed rare variant of bullous pemphigoid is described. Moreover, findings in the various immunopathologic studies we performed establish this entity as a true morphologic variant of bullous pemphigoid. OBSERVATIONS--In situ deposits of IgG in this patient's epidermal basement membrane zone localized to the epidermal side of 1 mol/L of saline-split skin. Moreover, the patient had circulating IgG autoantibodies that bound the epidermal side of 1 mol/L of saline-split skin in indirect immunofluorescence microscopy and immunoprecipitated the 230-kd bullous pemphigoid antigen from biosynthetically radiolabeled human keratinocyte extracts. These laboratory findings are identical to those documented in patients with the generalized "classic" form of bullous pemphigoid. CONCLUSIONS--This study demonstrates that a child with clinical, histopathologic, and immunopathologic features of localized vulvar pemphigoid had circulating autoantibodies that identify a specific keratinocyte antigen, the bullous pemphigoid antigen, which may serve as a molecular marker for this disease.     

A benign form of Letterer-Siwe disease

An infant developed, at the age of three weeks, a rash consisting of scaling papules, mainly present on the trunk and later spreading to the scalp. Biopsy showed a dermal infiltrate of histiocytes. The child was otherwise in perfect health and showed none of the other usual clinical features of Letterer-Siwe disease. Full blood count was normal but a skeletal survey showed one lytic lesion in the right parietal bone. The skin was treated with betamethasone valerate ointment but no treatment was given to the skull infiltrate. By the age of 10 months the skin eruption had completely disappeared and the bony lesion showed radiological signs of healing. Together with fifteen other cases described in the literature, this infant shows that Letterer-Siwe disease can be benign and self-limiting.     

Circumscribed myxoedema of lichen myxoedematosus as a sign of faulty formation of the proteoglycan macromolecule

Using a new method devised by our laboratory, the ultrastructure of dermal glycosaminoglycan in an involved area of lichen myxoedematosus was examined. Although histochemical and biochemical studies have indicated simply an accumulated deposition of hyaluronic acid in the lesion, the glycosaminoglycan ultrastructure within it was distinaly different from that in normal skin. The glycosaminoglycan structure of normal skin was similar to the proteoglycan aggregate model described by Rosenberg (1975). As confirmed by the enzymatic digestion procedure, it represents the ultrastructure of hyaluronic acid bound to glycosaminoglycans such as dermatan sulphate or chondroitin sulphate. In contrast, hyaluronic acid filaments observed in lesions of lichen myxoedematosus contained no glycosaminoglycan subunits.     

Idiopathic facial aseptic granuloma: a multicentre prospective study of 30 cases

BACKGROUND: Idiopathic facial aseptic granuloma (IFAG) was recently described in a single-centre retrospective study as a skin condition that occurs specifically in childhood. OBJECTIVES: To improve our epidemiological, clinical and pathological knowledge on IFAG, to search for an infectious aetiology, and to assess therapeutic recommendations. METHODS: Children presenting with one or several acquired nodules on the face, lasting for at least 1 month, with no evidence of any other recognizable clinical entity such as infantile acne, pilomatrixoma, furuncle, tumour or vascular malformation, were enrolled in a prospective multicentre study from June 2001 to June 2004, involving the main French paediatric dermatology outpatient units. We recorded clinical details about the nodule and its duration, ultrasound study pattern, cultures for bacteria and mycobacteria, and Bartonella henselae and Afipia felis antibody testing. RESULTS: Thirty children (17 boys and 13 girls, mean age 3.8 years) were enrolled. Ultrasound studies revealed a solid well-demarcated hypoechoic lesion without calcium deposit. Cultures for bacteria were negative in 70% of cases. Cultures for mycobacteria and cat scratch disease serologies were negative. Antibiotic therapy was ineffective; the lesion healed spontaneously with a mean duration of 11 months. Histological examination, performed in five cases, showed a chronic dermal lymphohistiocytic granuloma with numerous foreign body-type giant cells. CONCLUSIONS: IFAG is characterized by a painless facial nodule, presenting as a single lesion localized on the cheek, with a prolonged course but spontaneous healing. Oral or local antibiotics are usually ineffective. Regarding the pathophysiology, our study rules out a primary infectious disease, and allows considering IFAG either as a granulomatous process appearing around an embryological residue or as a manifestation to include in the spectrum of granulomatous rosacea in childhood.     

孢子丝菌病的人与人相互传播问题

本文报告了一例托儿所保育员由于经常与患有孢子丝菌病皮损的息儿接触而发生相似皮损,两者的皮损真菌培养均为申克氏孢子丝菌.为证明这种孢子丝菌有直接传播的可能性,我们以有孢子丝菌病灶的小白鼠尾部与其它健康小白鼠尾部接触,后者无论皮肤有无外伤,均产生孢子丝菌性病灶.故我们认为该患者的发病是由于与患儿直接接触所致.     

原发皮肤的儿童结外NK/T细胞淋巴瘤-鼻外型1例及文献复习

目的报道1例原发皮肤的儿童结外NK/T细胞淋巴瘤,鼻外型,并回顾文献,学习该病的临床特征、组织病理、免疫组化及治疗预后特点,以提高临床医生对该病的认识。方法分析本例原发皮肤的儿童结外NK/T细胞淋巴瘤-鼻外型患者的临床表现、辅助检查、病理组化及治疗预后,并复习近年国内外相关文献。结果 11岁男性患儿表现为皮肤结节、斑块伴乏力,肝脾淋巴结明显肿大。实验室检查示白细胞和血小板降低,肝酶升高,乳酸脱氢酶升高,凝血时间延长,血液EBV-PCR高度复制。组织病理提示局部或弥漫大小不一淋巴细胞浸润,可见核碎裂,部分细胞核大深染。免疫组化:CD3(+)、CD20(-)、CD56(+++)、颗粒酶B(+)、T细胞胞浆内抗原-1(+)、Ki-67约30%~40%(+);EB病毒编码RNA原位杂交(+++)。诊断:原发皮肤的结外NK/T细胞淋巴瘤,鼻外型。告知病情后家属放弃治疗。结论不同于鼻型,本病的临床表现特异性不高,易误诊为脂膜炎等,多合并系统受累,确诊依靠组织病理、免疫组化、EBV病原学检验及结合临床表现。尽管采用强势化疗,本病仍预后不良。     

药物超敏综合征17例临床分析

目的：加深对药物超敏综合征的认识。方法：回顾分析17例药物超敏综合征患者的临床资料。结果：17例患者均以皮疹、发热为首发症状，于用药后2-6周发生；其中伴浅表淋巴结大者12例、肝细胞损害者16例、肺损害者2例、肾损害者1例、白细胞升高者13例、血嗜酸粒细胞增多者14例；可疑致病药物为：别嘌呤醇9例、卡马西平3例、氨苯砜(DDS)3例、解热镇痛药2例。结论：临床用药过程中，如出现高热、浅表淋巴结大、血细胞异常、嗜酸粒细胞明显增高、全身性皮疹、内脏损害者应高度警惕药物超敏综合征。     

Crohn's Disease with Cutaneous Polyarteritis Nodosa in a Child: A Case Report

A 10-year-old boy presented with a 1-day history of multiple painful erythematous skin lesions on his upper and lower extremities. He was admitted to the Department of Pediatrics with persistent right lower abdominal pain and diarrhea. Punch biopsy of a skin lesion on his lower leg showed necrotizing granulomatous vasculitis with septal panniculitis consistent with polyarteritis nodosa, and our differential diagnosis included cutaneous manifestations of Croh''s disease. Abdominal ultrasonography revealed distended colonic loops suggestive of inflammatory bowel disease. Upper and lower gastrointestinal endoscopy revealed lesions involving the duodenum, cecum, colon, and rectum. He developed multiple perianal fistulas during hospitalization. Additional laboratory tests revealed positive results for anti-saccharomyces cerevisiae and antinuclear antibodies. Based on his clinical presentation and laboratory findings, he was diagnosed with Crohn''s disease associated with cutaneous polyarteritis nodosa. We report a rare case of a child who presented with cutaneous polyarteritis nodosa as an extraintestinal manifestation of Crohn''s disease.     

Cutaneous sarcoidosis: differential diagnosis

Sarcoidosis is a multisystem disease with cutaneous lesions present in 20%-35% of patients. Given the wide variability of clinical manifestations, it is one of the "great imitators," making it necessary to consider clinical, epidemiological, radiographic, laboratory, and histopathological criteria to make the diagnosis. Cutaneous lesions have been classified as specific and nonspecific, depending on the presence of noncaseating granulomas on histologic studies. Specific lesions include maculopapules, plaques, nodules, lupus pernio, scar infiltration, alopecia, ulcerative lesions, and hypopigmentation among others. Nail, mucosal, and childhood sarcoidosis represent a distinct subset of the disease process. The most common nonspecific lesion is erythema nodosum. Others include calcifications, prurigo, erythema multiforme, nail clubbing, and Sweet syndrome. The importance of considering cutaneous sarcoidosis in the clinical differential diagnosis of a given skin lesion relies on the association with systemic involvement and the convenience of the skin as a tissue source for histologic analysis.     

Cosmeceuticals and silibinin

Cosmeceuticals are used for nourishing and improving the appearance of the skin and are also documented as effective agents for treating various dermatologic conditions. Cosmeceutical preparations from herbal origin are most popular among consumers because these agents are mostly nontoxic and possess strong antioxidant activity. Because oxidative stress is one of the major mechanisms for skin aging and dermatologic conditions, phytochemicals with proven antioxidant activity, such as silibinin, could be useful for treating many dermatologic conditions as well as skin aging. Silibinin is a flavonolignan compound from Silybum marianum (milk thistle plant) that possesses strong antioxidant activity and also modulates many molecular changes caused by xenobiotics and ultraviolet radiation to protect the skin. This contribution reviews the evidence generated from laboratory studies to support the scientific rationale for the effective use of silibinin in cosmeceutical preparations.     

Dietary fish oil as a photoprotective agent in hydroa vacciniforme

Hydroa vacciniforme is a troublesome and scarring photosensitivity disorder for which treatment is unsatisfactory. Dietary fish oil rich in ω-3 polyunsaturated fatty acids reportedly increases the resistance to ultraviolet-induced erythema and rash provocation in polymorphic light eruption. We report for the first time the response of hydroa vacciniforme to dietary fish oil. Three Caucasian boys with the condition were placed on MaxEPA, five capsules daily. Phototesting was performed at baseline and after 3 months supplementation. At baseline, low erythemal thresholds were seen to monochromated UVA at 350 and 370 nm in all three boys, while one also had a low threshold to 320 nm (UVA) and another showed a low threshold to 300 nm (UVB). Broad-band UVA provocation challenge produced typical skin lesions in all the subjects. Following fish oil, all the boys showed reduced erythemal sensitivity to UVA and one also showed reduced sensitivity to UVB. Provocation challenge revealed a reduced response in all three children. Clinically, these changes were accompanied by pronounced improvement in one child, mild improvement in the second child, but no improvement in the third. The third boy subsequently showed good clinical response to azathioprine.     

Leukemia Cutis in Three Children: Clinical and Immunohistochemical Studies

Abstract: We report 3 children with leukemia cutis observed at the initial diagnosis of systemic leukemia. Leukemia subtypes in the three children were congenital monocytic, acute undifferentiated, and acute monocytic, respectively. The patients were girls age 10 days, 14 years, and 11 months, respectively, at diagnosis. We describe the clinical features of the cases and the results of immunohistochemical studies on paraffin-embedded skin biopsy specimens. The skin lesions were tumors and areas of reddish purple erythema in the first child, pigmented erythema in the second, and bright red erythema in the third. In the first two patients skin lesion biopsy specimens had dense leukemic infiltrates in the dermis with reactive T lymphocytes scattered among them. In the third patient, the infiltrating cells were almost all reactive T lymphocytes, with a few leukemic cells. A relationship between the leukemic-reactive cell ratio and the prognosis was suggested; dense leukemic cell infiltrates may be associated with a poor prognosis.     

生物素酶缺乏症一例研究

目的 探讨因生物素酶缺乏症所致皮肤、神经损害患儿的临床特征、诊断与治疗方法.方法 运用尿有机酸分析(气相色谱-质谱联用)及干燥血液生物素酶活性测定进行筛查与诊断,对患儿的临床表现、生化特点、诊疗情况进行分析.结果 患儿男,生后2个月头部出现散在湿疹、脓疱疹,8个月时全身发红、脓疱疹;智力发育正常,运动发育落后,6个月起出现肌张力不全样发作.5岁4个月时来院.体检见重度营养不良貌,毛发稀黄,全身弥漫性浸润性红斑,头面部、躯干、四肢散在脓疱疹,表面可见脓痂.全身瘫痪,四肢挛缩,躯干及四肢肌张力增高.实验室检查发现轻度贫血、代谢性酸中毒、血浆肌酸激酶增高.有机酸分析显示尿乳酸、丙酮酸、3-羟基丙酸、丙酰甘氨酸、甲基巴豆酰甘氨酸增高.干燥滤纸血片生物素酶活性<0.1pmol·min^-1·3mm^-1,符合生物素酶缺乏症.经生物素(10mg/d)补充治疗与营养干预后,患儿全身情况逐渐好转,2周后皮疹愈合,经康复训练后,运动能力亦逐渐提高.结论 生物素酶缺乏症常导致严重皮肤与神经系统损害,早期诊断与治疗是挽救患儿的关键.该患儿以脓疱性银屑病样损害及肌张力不全型脑性瘫痪为主要表现,生物素补充治疗疗效显著,但由于发现过晚,遗留下肢痉挛性瘫痪.     

Griscelli syndrome

A 4-month-old child had silvery gray hair, light-colored skin, recurrent chest infections, hepatosplenomegaly, and episodes of pancytopenia and hemophagocytosis in the liver, spleen, and bone marrow. Light microscopy of hair showed characteristic large aggregates of pigment granules distributed irregularly along the hair shaft. Peripheral blood smear examination did not show giant granules in granulocytes. Enlarged hyperpigmented basal melanocytes with sparsely pigmented adjacent keratinocytes were seen on the skin biopsy specimen. On the basis of these clinical and laboratory findings, Griscelli syndrome was diagnosed. The child succumbed to infection during an accelerated phase of the disease.     

Leukoderma acquisitum centrifugum. An unusual case.

A case is presented of a 9-year-old girl who developed a depigmented halo around a pigmented tumor of the skin on her shoulder. She also developed widespread metastases in the ipsilateral axillary lymph nodes, lungs, and, presumably, liver, and subsequently died of her disease. Histologic interpretations of the nature of the cutaneous tumor and axillary metastases are given and the suggestion made that the skin lesion was a malignant melanoma. Should this interpretation be correct, this case represents the first of its kind in which a lesion in a child with the clinical features of a halo nevus proved to be a fatal malignant melanoma.     

Scrotal temperatures do not differ among young boys wearing disposable or reusable diapers

Background/aims: This study investigated the effect of specific, commonly used diaper types on scrotal temperatures in normal healthy, young boys. These included both modern disposable and reusable diapers as well as various types of protective outer coverings that are in common use in both North America and Europe Methods: Scrotal and skin surface temperatures were continuously monitored in healthy, young males using a computerized data-logging system based on temperature probes specifically designed for paediatric studies. These systems could be used either tethered to the PC or made completely portable depending upon the age and activity of the child being measured. Based on our results from several pilot studies, it became clear that the best way to determine if disposable and reusable diapers differ with regard to their impact on scrotal temperatures is to run these comparisons under controlled laboratory conditions where ‘diaper type’ was the primary variable. A 2-h time period was chosen to ensure that sufficient time had elapsed for thermal equilibrium to be established under the diapers. We also felt it necessary to study the impact of urination and simulated this condition over the last 15 min using standardized methods. In addition to the skin surface temperatures, we also measured the temperature of the tympanic membrane using an infrared thermometer as an estimate of ‘core’ temperature for each individual at various times during the session. Results and Conclusions: In this study, we have clearly shown that scrotal temperatures are the same whether the child is wearing disposable or reusable cloth diapers with a protective cover. The only situation in which scrotal temperatures were found to be lower is when the cloth diaper is used alone without a protective cover but this is not representative of how these products are actually used. We also found that on average scrotal temperatures are significantly lower than core for each diaper type. Occasionally, we did see individuals in which the maximal scrotal temperatures approached core temperatures but in every case the thermal sensors were soiled by a bowel movement. We also found that skin surface temperatures increased not only when covered by a diaper but also due to the thermal insulation provided by outer garments and blankets.     

PITYRIASIS ALBA: A HISTOLOGIC STUDY

Background. Pityriasis alba is a common dermatitis, but only a few histologic studies have been reported and most of these maintain that its microscopic features are those of a chronic nonspecific dermatitis. Methods. A retrospective light microscopic study was performed on biopsy specimens taken from 39 patients with localized pityriasis alba on face, arms and forearms without signs of atopy. Thirty-two patients were girls or women and seven were boys or men, with ages ranging from 7 to 37 years. The duration of illness varied from 1 month to 10 years. The clinical picture was characterized by three clinical stages: papular erythematous, papular hypochromic, and smooth hypochromic. Results. The histologic study revealed features that were suggestive, though not pathognomonic, of the diagnosis. The most remarkable changes involved the pilary apparatus, which showed horny plugs, spongiotic edema, and atrophic sebaceous glands. There was also a disturbance of melanization secondary to epithelial damage. The tissue reaction was more conspicuous in the skin lesions with follicular papules. Conclusions. A histopathologic diagnosis of pityriasis alba may be proposed when the following features are seen in a biopsy specimen taken from a skin lesion with follicular papules: (1) irregular pigmentation by melanin of the basal layer; (2) follicular plugging; (3) follicular spongiosis; and (4) atrophic sebaceous glands.     

Atypical IgA/IgG Pemphigus Involving the Skin,Oral Mucosa,and Colon in a Child: A Novel Variant of IgA Pemphigus?

Immune-mediated blistering diseases are rare in childhood, with the subset of IgA pemphigus being extremely uncommon. A child with a bullous disorder of the oral mucosa, skin, and colon is reported because of the unusual nature of the clinical and laboratory findings. Immunofluorescence studies demonstrated both intercellular epidermal and basement membrane zone deposition of IgA and IgG antibodies, as well as intercellular colonic deposition of IgA antibodies. IgA and IgG ELISA tests were positive for desmoglein 3 as the intercellular epidermal antigen. The generation of multiple antibodies against several potential antigenic targets suggests epitope spreading may play a role in this disease. We believe this represents a novel variant of IgA pemphigus.