Initial Cutaneous Manifestations of Hutchinson‐Gilford Progeria Syndrome

Hutchinson–Gilford progeria syndrome (HGPS) is a rare, uniformly fatal, premature aging disease with distinct dermatologic features. We sought to identify and describe the initial skin and hair findings as potential diagnostic signs of the disease. We performed a chart review of the structured initial intake histories of 39 individuals with HGPS enrolled in clinical trials from 2007 to 2010 at Boston Children's Hospital, limited to cutaneous history from birth to 24 months. Medical photographs were provided through the clinical trials and the Progeria Research Foundation Medical and Research Database at Brown University Center for Gerontology and Healthcare Research. All 39 patients reported skin and hair abnormalities within the first 24 months of life. Pathologies included sclerodermoid change, prominent superficial veins, dyspigmentation, and alopecia. The mean age of presentation for each finding was <12 months. The most frequently reported skin feature was sclerodermoid change, which commonly involved the abdomen and bilateral lower extremities. Prominent superficial vasculature manifested as circumoral cyanosis and pronounced veins on the scalp and body. Hypo‐ and hyperpigmentation were observed over areas of sclerodermoid change. Scalp alopecia progressed in a distinct pattern, with preservation of the hair over the midscalp and vertex areas for the longest period of time. HGPS has distinct cutaneous manifestations during the first 2 years of life that may be the first signs of disease. Awareness of these findings could expedite diagnosis.     

Muckle–Wells Syndrome: A Case Report with an NLRP3 T348M Mutation

Autoinflammatory syndromes are a recently described group of conditions caused by mutations in multiple genes that code for proteins of the innate immune system. Cryopyrin‐associated periodic syndromes are autoinflammatory diseases comprising three clinically overlapping disorders: familial cold urticaria syndrome, Muckle–Wells syndrome (MWS), and neonatal‐onset multisystem inflammatory disease. MWS is characterized by a moderate phenotype with fever, rash, arthralgia, conjunctivitis, sensorineural deafness, and potentially life‐threatening amyloidosis. We report a 5‐year‐old girl with MWS that manifested as a recurrent skin rash without fever episodes or intracranial hypertension with papilledema. Genetic analysis revealed a T348M mutation of the NLRPR 3 gene in the patient and her mother. She was successfully treated with the interleukin‐1β antagonist receptor anakinra.     

Adams–Oliver Syndrome: A Case Report

We report the case of an infant with Adams–Oliver syndrome, a rare disorder characterized by aplasia cutis congenita, defects of the limbs and extremities, and cutis marmorata telangiectatica. Other associated anomalies have been reported, such as facial dysmorphism, heart defects, and disorders of the central nervous system.     

EPHB4 Mutation Implicated in Capillary Malformation–Arteriovenous Malformation Syndrome: A Case Report

Capillary malformation–arteriovenous malformation (CM‐AVM) syndrome, due to inactivating mutations in RASA1 in 68% of cases, is characterized by the development of cutaneous capillary malformations and arteriovenous malformations or fistulas; no known genetic etiology has been identified in patients with CM‐AVM syndrome without RASA1 mutations. We present the case of a child with RASA1‐negative CM‐AVM syndrome with a de novo missense mutation in EPHB4, a transmembrane tyrosine kinase receptor essential for vasculogenesis. Inactivating the mutation in EPHB4 has been shown to upregulate the mitogen‐activated protein kinase pathway and the mammalian target of rapamycin complex 1, possibly contributing to the development of vascular malformations.     

Metformin alleviates ageing cellular phenotypes in Hutchinson–Gilford progeria syndrome dermal fibroblasts

Metformin is a popular antidiabetic biguanide, which has been considered as a candidate drug for cancer treatment and ageing prevention. Hutchinson–Gilford progeria syndrome (HGPS) is a devastating disease characterized by premature ageing and severe age‐associated complications leading to death. The effects of metformin on HGPS dermal fibroblasts remain largely undefined. In this study, we investigated whether metformin could exert a beneficial effect on nuclear abnormalities and delay senescence in fibroblasts derived from HGPS patients. Metformin treatment partially restored normal nuclear phenotypes, delayed senescence, activated the phosphorylation of AMP‐activated protein kinase and decreased reactive oxygen species formation in HGPS dermal fibroblasts. Interestingly, metformin reduced the number of phosphorylated histone variant H2AX‐positive DNA damage foci and suppressed progerin protein expression, compared to the control. Furthermore, metformin‐supplemented aged mice showed higher splenocyte proliferation and mRNA expression of the antioxidant enzyme, superoxide dismutase 2 than the control mice. Collectively, our results show that metformin treatment alleviates the nuclear defects and premature ageing phenotypes in HGPS fibroblasts. Thus, metformin can be considered a promising therapeutic approach for life extension in HGPS.     

Mycoplasma pneumoniae–Induced Recurrent Stevens–Johnson Syndrome in Children: A Case Report

Mycoplasma pneumoniae, the major pathogen of primary atypical pneumonia, is reported as the most common infectious agent associated with Stevens–Johnson syndrome (SJS) in children. For that reason it is important to consider mycoplasma infection also in the absence of classical pulmonary symptoms. SJS is a rare and acute, self‐limited disease, characterized by severe inflammation and necrosis of two or more mucous membranes. We report the case of a 12‐year‐old boy with a diagnosis of SJS induced by M. pneumoniae infection. The patient's SJS relapsed 8 months after discharge. When the condition is recurrent, it is important early on to identify the cause of a single episode to optimize care and therapeutic choices.     

裴氏着色真菌病1例报告

目的：患69岁，男性，右足背及跟部增殖损害12年，皮损逐渐增生，扩大呈疣状增生，经多方治疗无明显疗效，实验室检查证实为裴氏着色真菌感染，经特比奈芬治疗后症状逐渐消退，治疗反应良好。     

Shwachman Syndrome: A Case Report

Cutaneous involvement is frequent in Shwachman syndrome, and includes various degrees of dry skin, and eczematous and ichthyosiform lesions. A 12-year-old boy with Shwachman syndrome had cutaneous involvement characterized by dry skin, perioral dermatitis, and follicular keratosis. Polymorphonuclear motility was decreased. A nutrition work-up showed a decrease in liposoluble vitamins, and suggested a causative link with the skin lesions.     

Ascher Syndrome: A Case Report

Abstract:   Ascher syndrome is a rare disease described by Ascher, an ophthalmologist from Prague, in 1920. We report a case of an 8-year-old child, who presented with recalcitrant recurrent swelling of bilateral upper eyelids, probably a forme fruste of Ascher syndrome.     

Rothmund-Thomson Syndrome: A Case Report

We present a 4-year-old girl with poikiloderma, radial aplasia, short stature, facial dysmorphism, and sparse hair. We believe these findings to be consistent with a diagnosis of Rothmund-Thomson syndrome.     

Diamond-Gardner Syndrome: A Case Report

Abstract: We present a 13-year-old girl who came to our attention for an erythematous bruised lesion which appeared spontaneously without any apparent coagulopathy. The history, histology, and positive “skintest,” carried out by subcutaneously injecting autologous erythrocytes obtained from heparinized blood, confirmed the suspected diagnosis of Diamond-Gardner syndrome. No alterations of blood vessel walls or thromboses were found. Evaluation of hemocoagulative parameters revealed an increased factor VIII level and reduced platelet aggregation after stimulation by adenosine diphosphate (ADP.)     

甄氏外瓶霉所致皮肤暗色丝孢霉病1例

患者女,57岁。右前臂伸侧出现红色斑块、溃疡5月余。皮损组织病理示:角化过度,表皮增生,真皮浅层及中层可见弥漫性以嗜中性粒细胞为主的混合炎性细胞浸润,伴红细胞渗出,真皮组织中存在真菌孢子及菌丝样结构。真菌种属鉴定示:甄氏外瓶霉。诊断:甄氏外瓶霉所致暗色丝孢霉病。伊曲康唑与特比萘芬口服联合治疗效果显著。     

暗孢节菱孢引起皮肤感染一例

目的报道1例暗孢节菱孢引起的皮肤真菌病。方法患者男,25岁,左臀部一片慢性肉芽肿样损害,呈疣状增生。表面多片溃疡、糜烂,轻压有脓性分泌物溢出,有腐臭味,触之略硬,且有轻度触痛。中心部位有明显淡灰褐色萎缩斑,边缘明显隆起,表面附有黑色痂皮。从患者皮损取材,进行涂片、培养及组织病理学检查,并经家兔致病性研究重现组织病理特征,同时作体外药敏试验。结果直接镜检、组织病理切片均未见真菌菌丝,但5次培养均为同一种菌生长,镜下见透明、线样的分生孢子梗从葫芦形的母细胞长出并产生侧生分生孢子,分生孢子呈眼晶体状,黑棕色,具有一中纬部的线状芽裂,为此菌的主要特征。在实验家兔的皮损刮屑中可见菌丝及类似厚壁孢子的肿胀细胞。体外药敏试验显示5种抗真菌药物的MIC值分别为:氟康唑>64μg/mL;伊曲康唑>64μg/mL;特比萘芬0.125μg/mL;酮康唑4.0μg/mL;咪康唑8.0μg/mL。结论根据在SDA培养基上的菌落形态和显微镜下特征性结构,该病例为暗孢节菱孢引起的皮下真菌感染。     

白念珠菌颈淋巴结炎一例

目的 报道国内首见白念珠菌性淋巴结炎1例。方法 全面临床检查排除其他疾病;进行了淋巴结培养、鉴定、组织病理、透射电镜、流式细胞仪、细胞免疫学检测等研究。结果 患者为8岁男孩,平时体健,一次颈部皮肤轻微的外伤后,颈部淋巴结广泛肿大,手术取一淋巴结进行培养鉴定为白念珠菌生长,组织病理检查发现在淋巴结中有大量出芽孢子及假菌丝。用流式细胞仪对患者进行细胞免疫学检查,发现患者细胞免疫低下。患者接受氟康唑静脉滴注,同时用小牛胸腺肽增强患者细胞免疫、手术切除等综合治疗,并口服氟康唑及特比萘芬维持治疗2个月。患者病情明显好转,淋巴结不能触及。随访至今细胞免疫状况有明显改善,且无其他异常发现。结论 复习文献,局限性白念珠菌淋巴结炎国内未见报道,细胞免疫等综合治疗有效。     

别嘌呤醇致药物超敏综合征1例

报告1例别嘌呤醇所致药物超敏综合征。患者男,49岁。因"痛风"口服别嘌呤醇半月,停药数天后,全身出现皮疹。皮肤科情况:头面、躯干、四肢可见簇集米粒大小红色斑丘疱疹,群集分布,部分融合成斑块,双下肢见紫癜样皮疹。右中腹皮损组织病理示:真皮乳头层高度水肿,部分形成表皮下水疱,真皮浅层血管周围淋巴细胞浸润。     

辨证治愈脑垂体微腺瘤致闭经不孕一例

目的:报告用中医药辨证治疗脑垂体微腺瘤导致闭经不孕。方法:加味逍遥散加减和桂枝茯苓丸加减治疗三个月。结果:脑垂体微腺瘤消失且孕育成功。结论:本着祖国医学的“坚者削(消)之”、“虚者补之”和“热者清之”之大法,治疗肝郁血虚血瘀有热型的脑垂体微腺瘤致闭经不孕收到奇效。比现代医学在治疗上主张手术治疗和放射疗法更容易让病人接受。     

尼群地平致泛发性固定性药疹1例

患者男,66岁,全身泛发圆形紫红斑伴微痒渐增4年余。患者4年前患高血压病,予尼群地平片10mg,每日3次VI服,服药一段时间后口周出现圆形红斑,微痒,当时未在意,后全身多处逐渐出现圆形或类圆形紫红斑,于当地诊所诊治,诊断不明,予皮炎平等药外搽后皮损好转,但不能彻底消退（未停用尼群地平）。     

Fetal Hydantoin Syndrome: A Case Report

An infant with features of fetal hydantoin syndrome, born to an epileptic mother, was followed from birth to 20 months of age. Physical findings included gum hypertrophy, digitalization of the thumbs, hypoplasia of the distal phalanges and nails, epicanthal folds, pseudohypertelorism, epidermoid cyst, and geographic tongue. Available literature about the disorder is reviewed.