Hereditary cholestasis, an unusual etiology of pruritus in the infant

INTRODUCTION: Pruritus in the infant is predominantly related to common dermatosis. General causes remain exceptional. We report two cases of pruritus in infants revealing anicteric cholestasis. OBSERVATIONS: Case no 1. A thirteen month-old boy had exhibited pruritus since the age of 2 months. The clinical examination was non-specific. Biological explorations revealed an isolated and moderate rise in total bilary acids. The search for mutations in the genes of a familial fibrogenic cholestasis was negative. The diagnosis retained was hypercholanemia. Treatment combined ursodesoxycholic acid and rifampicine, which controlled the pruritus and normalized the bilary acid levels. Case no 2. A twenty-one month-old boy had exhibited pruritus since the age of 2 months and delayed growth. The clinical examination was unspecific. The biological explorations revealed cholestasis with normal delta GT, moderate cytolysis and liposoluble vitamin deficiency. The hepatic biopsy was normal. The diagnosis retained was familial fibrogenic cholestasis. Treatment combined ursodesoxycholic acid and rifampicine, which controlled the pruritus and normalized the hepatic parameters. DISCUSSION: Non-dermatological isolated pruritus is rare in infants. These two observations illustrate two abnormalities in bilary acid transport. Hypercholanemia is a faulty canalization of bilary acids by the hepatocyte. Familial fibrogenic cholestasis is a default in the elimination of these bilary acids. Such pathologies must be evoked because specific treatment will treat the symptoms and avoid the evolution of familial fibrogenic cholestasis towards cirrhosis.     

SUBEPIDERMAL CALCIFIED NODULE OF THE EAR IN A CHILD WITH HAIR FOLLICLE NEVUS

A 9-year-old Korean boy visited the Department of Dermatology, Yonsei University Wonju College of Medicine, with a nodule on the right earlobe with pruritus for 6 months. His past medical history and family history were unremarkable. Physical examination revealed a 5 mm diameter, oval, firm, erythematous nodule on the helix of his right earlobe (Fig. 1). He denied any antecedent trauma. Histopathologic examination of an excisional biopsy specimen showed epidermal hyperplasia and focal parakeratosis. In the upper dermis there were focal collections of deep blue staining calcified material surrounded by some lymphocytes and histiocytes (Fig. 2). The surrounding dermis contained numerous small, well-differentiated hair follicles with thick fibrous root sheaths and some sebaceous glands connected with the hair follicles (Fig. 3). Von Kossa stain confirmed the impression that the nodules consisted of calcium. Serum calcium and phosphorus levels were normal.     

Specific infiltrate of Hodgkin lymphoma at site of cellulitis mimicking secondary cutaneous involvement

Hodgkin lymphoma (HL) usually involves the lymph nodes, but concomitant cutaneous manifestations can also occur. The diagnosis of cutaneous involvement by HL must be supported by specific clinical and histopathological findings. We describe the case of a 56-year-old man recently diagnosed with HL of the left axillary nodes who developed cellulitis of the left trunk. Histopathological examination of a skin biopsy specimen revealed the presence of large atypical lymphoid cells with the same immunophenotype of those located in the lymph node affected by HL. Our case adds to the many cutaneous infiltrations by neoplastic cells during the course of an inflammatory skin disease, namely cellulitis.     

眉部瘢痕性红斑一例

患者男,12岁,眉、颊部红斑、毛囊性丘疹7年。以眉部红斑、毛囊性丘疹起病,渐蔓延至颊部、前额,后逐渐出现眉毛脱落,无瘙痒等不适。体检：眉部、前额、颊部暗红色斑片,边界尚清,其上有针头至米粒大小毛囊性丘疹,表面光滑,质稍硬,眉毛大部分脱落。皮损组织病理检查：毛囊口扩大,毛囊角栓,真皮浅层胶原纤维增粗、硬化,血管、毛囊周围少量淋巴组织细胞浸润。根据临床表现及皮肤组织病理,诊断为眉部瘢痕性红斑。治疗：口服维生素A 2.5万U每日1次,维生素E 100 mg每日1次,外用维生素E乳膏每日2次,0.025%维A酸软膏每晚1次。治疗2周后皮损改善。     

Childhood sarcoidosis presenting with extensive cutaneous lesions, bilateral hilar lymphadenopathy and severe hypercalcaemia

A 9-year-old boy with a history of atopic dermatitis presented with a 4-month history of an asymptomatic papular eruption. This was predominantly perioral in distribution with lesser involvement of the neck, arms and trunk. Investigations revealed severe hypercalcaemia of 3.77 mmol/L (normal range 2.10-2.60) and bilateral hilar lymphadenopathy. The diagnosis of sarcoidosis was supported by granulomata in skin and lymph node biopsies on histopathological examination. Prednisolone (2 mg/kg/day) rapidly normalized serum calcium.     

Linear angioma serpiginosum

Angioma serpiginosum distributed in a linear fashion along the upper extremity of an adolescent boy is described. Histopathologic examination revealed the characteristic numerous thick-walled capillaries in the dermal papillae.     

Lipodystrophia centrifugalis abdominalis infantilis-- immunohistochemical demonstration of an apoptotic process in the degenerating fatty tissue

We report a case of lipodystrophia centrifugalis abdominalis infantilis (LCAI) showing apoptosis during the lipoatrophic process by immunohistochemical staining. A 3-year-old boy was seen with a 3-month history of a centrifugally spreading depressed eruption without pain and pruritus on his abdomen. He had fever, diarrhea and vomiting for a week at the beginning of his eruption. Physical examination revealed a palm-sized well-demarcated atrophic plaque on his lower abdomen and left inguinal fold. His plaque showed fine erythema peripherally. A skin biopsy specimen showed remarkably decreased subcutaneous fatty tissue. Inflammatory cell infiltration including lymphocytes and histiocytes was noted in the degenerating fatty tissue. In the degenerating subcutaneous fatty tissue, positive staining for HLA-DR, Fas, bcl-2, p53 and transferase-mediated uridine nick end labeling in mononuclear cells were observed. He was diagnosed as having LCAI. The present case showed the possible involvement of apoptosis in the fatty tissue degeneration in LCAI.     

臂桡侧瘙痒症1例及文献复习

目的报道1例臂桡侧瘙痒症,并回顾文献,学习该病的临床特征、影像学变化及治疗,以提高临床医生对该病的认识。方法分析1例臂桡侧瘙痒症患者的临床表现、影像学检查及治疗预后,并复习近年国内外相关文献。结果老年男性患者,近1年无明显诱因出现双侧前臂瘙痒,夜间较重,不能忍受。皮肤科情况:双前臂外侧散在暗红色粟粒大小坚实丘疹,大片褐色色素沉着。患者既往颈椎病多年,颈椎X光片示颈椎退变,C5-C6椎间隙狭窄。颈部核磁共振成像(MRI)示C3-C7多节段椎间盘突出,椎管狭窄,以C5-C6为著。诊断:臂桡侧瘙痒症。治疗:0.1%他克莫司软膏(商品名:普特彼软膏)2次/d外用。2周后瘙痒明显减轻,1个月后皮疹消失,无瘙痒感,停药,3个月随访暂无复发。结论臂桡侧瘙痒症发病可能与颈椎退变相关,治疗可选择外用他克莫司软膏。     

以瘙痒及丘疹样发疹为主要表现的儿童艾滋病1例

报告1例以瘙痒及丘疹样发疹、腹痛为主要表现的儿童艾滋病。患儿男,10岁,学生。全身泛发皮疹伴顽固性瘙痒2年,右上腹痛1个月。其母妊娠中有输血史。体检:消瘦,腹股沟淋巴结、肝脾触及肿大。皮肤科情况:全身皮肤干燥,可见片状脱屑,散在灰褐色斑丘疹,部分干裂、脱屑,伴有米粒大小水疱,部分水疱破溃,有少量淡黄色液体渗出。面部皮肤干燥,眼、鼻、口周可见皮屑及裂纹。口腔黏膜及外生殖器未见损害。H IV抗体检测初筛及确证试验(+)。诊断:儿童艾滋病。建议患者到当地疾控中心进行治疗。     

Disseminated granuloma faciale

A 40-year-old man presented in January 2001 with multiple purple plaques and nodules, which had been present on the back for approximately 3 years. The lesions had gradually extended over the face, trunk and proximal extremities. He had no symptoms except occasional mild pruritus. The patient was in good health and was on no medications. Physical examination revealed multiple violaceous to brown, indurated, 5-50-mm, round to oval plaques on the face, arms, shoulders, and back (Fig. 1), as well as a solitary lesion on the right thigh. Surface telangiectases were noted, especially on the shoulder lesions. There was no scaling or ulceration. Routine laboratory tests were unremarkable. In April 1999, another medical center performed a biopsy of what they thought was sarcoidosis. The results were reported as "possible angiolymphoid hyperplasia with eosinophilia." With the possibility of granuoma faciale (GF) in mind, another skin biopsy was obtained from a facial lesion. This revealed a diffuse, relatively dense infiltrate of neutrophils, eosinophils and mononuclear inflammatory cells in dermis with an obvious Grenz zone (Fig. 2). Pilar units were intact, and endothelial cell swelling was present (Fig. 3). Retrospective evaluation of the initial biopsy, taken from the back, revealed the same changes, and helped confirm the diagnosis of GF. The patient was treated with liquid nitrogen for 20 s followed immediately by intralesional triamcinolone acetonide (5 mg/ml). This treatment was repeated every 4 weeks for three courses, resulting in partial resolution of the lesions.     

Reticular Erythematous Mucinosis Syndrome: Review of the World Literature and Report of the Syndrome in a Prepubertal Child

An 8-year-old boy with reticular erythematous mucinosis syndrome had erythematous plaques on his chest, face, and arms for three years. Sun exposure resulted in pruritus and increased lesions. Histologic examination revealed a perivascular mononuclear cell infiltrate with hematoxylin and eosin staining, positive staining material between the dermal collagen bundles with alcian blue (pH 2.5) staining, and granular basement membrane deposits of IgM with direct immunofluorescence staining. Results of all lupus erythematosus serologies and porphyrin studies were negative. Minimal erythema dose determinations to ultraviolet A and B were normal, and the lesions could not be induced with high doses of irradiation. Topical sunscreens, corticosteroid cream, and systemic beta-carotene produced no therapeutic benefit.     

【开放获取】度普利尤单抗治疗泛发性苔藓状淀粉样变1例国内首报

【摘要】 国内报道首例度普利尤单抗治疗泛发性苔藓状皮肤淀粉样变。患者男,70岁,躯干、四肢广泛丘疹伴瘙痒23年。皮肤科检查：躯干、右胫前、双上臂外侧见弥漫性粟粒至绿豆大小褐色半球形丘疹,质硬。血常规嗜酸性粒细胞、血清IgE未见异常。下肢皮损组织病理：表皮角化过度,真皮乳头可见均一红染的团块状物质。免疫组化刚果红染色阳性。瘙痒数字量表评分10分。诊断：泛发性苔藓状皮肤淀粉样变。治疗：皮下注射度普利尤单抗,首次600 mg,之后每2周注射300 mg。治疗第2周时,瘙痒即明显缓解,14周时皮损开始明显消退,18周时前胸、腹部皮疹基本消退,腰背部、四肢皮疹明显消退。未见明显不良反应。     

维布妥昔单抗治疗Sézary综合征一例

患者,男,41岁。全身弥漫性红斑伴严重瘙痒1年,多发淋巴结肿大3个月。PET/CT符合淋巴瘤;淋巴结病理：非霍奇金T细胞淋巴瘤,伴不规则、扭曲、脑回样核;皮肤病理：非霍奇金T细胞淋巴瘤,呈蕈样肉芽肿改变。结合患者症状、体征、影像学、病理及免疫组化结果,以及外周血T细胞基因重排均为阳性,诊断为Sézary综合征。给予化疗等一线药物治疗效果不佳。更换为含有维布妥昔单抗的治疗方案后患者红斑消退,瘙痒消失,淋巴结减小,达到完全缓解。     

Entwicklung eines deutschsprachigen Fragebogens zur Erfassung von chronischem Pruritus (AGP-Fragebogen)

Chronic pruritus may manifest itself clinically in terms of different duration, intensity and quality. There is no questionnaire assessing these parameters systematically. The study presents a pruritus questionnaire for the German speaking region (AGP-Questionnaire) developed by 4 experts in the field. It comprises questions on course, intensity and quality of pruritus, general health status, sociodemographic data, quality of life (QoL) and pruritus cognition. Standardised questionnaires such as the SF-12 Health Survey (recall period 4?weeks), the Hospital Anxiety and Depression Scale (HADS) and the Dermatology Life Quality Index (DLQI) were also used to assess the instrument's convergent validity. Feedback of the participants was obtained by a one-page evaluation sheet. 100 patients suffering from chronic pruritus of the university hospitals of Giessen, Heidelberg, Munich and Muenster participated in the study. This questionnaire is useful in providing a comprehensive and structured approach to assessing individual patients' chronic pruritus. The validity and sensitivity of this new pruritus questionnaire will require examination in further studies.     

儿童色素减退型蕈样肉芽肿一例并文献复习

报告儿童色素减退型蕈样肉芽肿一例并对相关文献进行复习。患儿,男,7岁。周身皮肤出现色素减退斑、红斑结痂1年,无明显瘙痒。组织病理检查：角层轻度角化,表皮轻度增生,可见淋巴样细胞亲表皮现象,真皮内可见团块状样细胞浸润。免疫组化示：CD3(+);CD20(个别+);CD21（-）;Ki-67（+10%）;CD2（+）;CD5（+）;CD7（+）;CD8（少许+）;CD4（+）。诊断：色素减退型蕈样肉芽肿。给予患儿NB-UVB治疗3个月皮损基本消退,目前维持治疗中。     

Case of metastatic melanoma in an epitrochlear lymph node arising in a pregnant woman

We describe a rare case of metastatic melanoma in an epitrochlear lymph node in a 29-year-old female patient. The patient had been aware of a brown macule on her right posterior forearm at puberty. Because the lesion had enlarged rapidly, she was referred to our hospital. Histological examination revealed a malignant melanoma. She underwent wide local excision with 3-cm margins and split thickness skin graft closure, but we were not able to perform sentinel node biopsy. She also received three cycles of systemic chemotherapy with dacarbazine, nimustine, vincristine and interferon-beta. However, an epitrochlear node (interval node) metastasis occurred during pregnancy (seventh week) 2 years after the operation. We emphasize that it is important for clinicians to pay attention to the possibility of epitrochlear node metastasis in patients with malignant melanoma in the upper extremity and that it is necessary to perform sentinel node biopsy to identify uncommon lymph node metastasis.     

Aggressive digital papillary adenocarcinoma: a report of two diseases and review of the literature

Aggressive digital papillary adenocarcinoma (ADPAca) is a rare, underreported, and often misdiagnosed malignant tumor of the sweat glands most commonly occurring in males in their fifties to seventies. We report two cases of ADPAca with important clinical implications. A 54-year-old man presented 3 years after digit amputation for ADPAca with new blue nodules on his arm, lymphadenopathy, and a lung nodule; he was diagnosed with and treated for metastatic ADPAca. He underwent chemotherapy, but died 4 months later. A 15-year-old boy presented with an enlarging tumor on his finger occurring after a trauma 3 years earlier. The tumor was suspected to be a deep fungal infection or pyogenic granuloma; however, results of excisional biopsy revealed an ADPAca. The patient underwent amputation and sentinel lymph node examination. No signs of metastases were found, and he is alive and well. These cases highlight both the importance of high clinical suspicion of digital tumors, even in children, enabling prompt diagnosis and treatment and also emphasize the metastatic potential of the tumor and the need for aggressive treatment and close long-term follow-up.     

Gastroesophageal reflux disease accompanying urticaria pigmentosa

A few case reports have only been published to date, which show the possible link between mastocytosis and gastroesophageal reflux disease (GERD). Here, we present a 17-month-old boy with urticaria pigmentosa who also suffered from GERD. First skin lesions accompanied by gastrointestinal symptoms (regurgitations, appetite worsening) were noticed at the age of four months. At that time, they were misdiagnosed as symptoms of cow's milk allergy. Despite the cow's milk-free diet, the skin and gastrointestinal symptoms slowly worsened and the patient was referred to us for further diagnostics several months later. Based on the clinical presentation of skin lesions, presence of pruritus and positive Darier's sign, cutaneous mastocytosis was diagnosed; 24-hour pH-metry revealed an increased number of acidic refluxes and biopsy of duodenal mucosa showed numerous mast cells. Taking into account these findings, the gastrointestinal symptoms were supposed to be a manifestation of mastocytosis. Treatment with sodium cromoglycate, cetirizine, ranitidine and probiotics resulted in pruritus alleviation, improvement of appetite and sleeping as well as increase of body weight.     

Cutaneous composite lymphoma of mycosis fungoides and Hodgkin lymphoma: Response to sequential therapy

Composite lymphoma is defined as two or more morphologically and immunophenotypically distinct lymphoma clones that occur in the same tissue site. The occurrence of cutaneous composite lymphoma (CCL) is extremely rare. Here we report a unique case of CCL consisting of Hodgkin lymphoma (HL) and mycosis fungoides (MF). Our patient presented with longstanding erythematous plaques on the skin and later developed axillary lymph node enlargement. Histopathologically, the skin lesions were characterized by a dense dermal lymphocytic infiltrate with prominent epidermotropism of pleomorphic T-cells, consistent with typical MF. Nonetheless, scattered large atypical cells resembling Reed-Sternberg (R-S) cells were interspersed among these atypical T-cells in the deep dermis. Immunophenotyping suggested a HL origin of these R-S cells. Monoclonality of T-cell receptor beta gene was detected in the skin, monoclonal immunoglobulin heavy chain gene rearrangement was identified in these R-S cells microdissected from the deep dermis, confirming the origin from HL. The lymph node biopsy showed nodular sclerosis classic Hodgkin lymphoma. Therefore, CCL of HL and MF, with lymph node HL was diagnosed. The lesions of this patient responded to a sequential treatment to HL and MF. Being aware of this rare CCL facilitates correct diagnosis and proper clinical management.     

Metastatic cutaneous squamous cell carcinoma arising from a previous area of chronic hypertrophic lichen planus

Malignant transformation of cutaneous lichen planus is a rare event. We report a 34 year old Caucasian male who presented with an exophytic tumor on the right foreleg. The tumor gradually developed within previous areas of histologically proven hypertrophic lichen planus that had existed for about 10 years. However, the current histological examination of the excised tumor revealed highly differentiated squamous cell carcinoma with a depth of tumor invasion of 10 mm. At that time, neither sentinel lymph node biopsy nor further imaging diagnostics revealed evidence for metastatic spreading. Nevertheless, five months after surgery inguinal lymph node metastases were detected. Initial chemotherapy and inguinal lymph node dissection were unable to stop the spread of the tumor. One year later, parailiacal lymph node metastases were detected by computed tomography. Further cycles of chemotherapy resulted in significant reduction of the parailiacal tumor masses. This report indicates that the long-standing hypertrophic form of lichen planus seems to have a considerable propensity for malignant transformation, even in young patients.