Bilateral Systematized Epidermolytic Verrucous Epidermal Nevus: A Rare Entity

Verrucous epidermal nevi are congenital, noninflammatory cutaneous hamartomas composed of keratinocytes. They follow the lines of Blaschko and show hyperkeratosis without cellular atypia. The routine histology shows variable amount of hyperkeratosis, acanthosis and papillomatosis and rarely epidermolytic hyperkeratosis. We saw a 3-year-old boy with bilaterally symmetrical, systematized verrucous plaques along the lines of Blaschko extensively involving the trunk and extremities but sparing the face and palmoplantar skin. Histopathology showed features of epidermal nevi with prominent epidermolytic hyperkeratosis. We report here the case for the rarity of this entity.     

Folliculitis spinulosa decalvans: an uncommon entity within the keratosis pilaris atrophicans spectrum

Folliculitis spinulosa decalvans is an uncommon condition characterized by follicular hyperkeratosis, followed by scarring alopecia. We report a 12-year-old boy affected by keratotic papules of the scalp and keratosis pilaris of the limbs who developed erythema, pustules, and scale crusts on the scalp associated with scarring alopecia. Histologic examination showed follicular and interfollicular hyperkeratosis, follicular plugging, mild inflammation, and focal scarring. A transient remission of the inflammatory changes on the scalp was obtained after treatment with isotretinoin. The follicular spinulous hyperkeratosis persisted. A severe relapse of the scalp inflammation was observed during a 2-year follow-up.     

Ichthyosis bullosa of Siemens: response to topical tazarotene

In 1937, Siemens described a Dutch family with superficial blistering, flexural hyperkeratosis, and characteristic mauserung appearance. Since then, less than 20 kindreds with this condition have been described in the English dermatologic literature. A 14-year-old boy presented with history of recurrent blistering and peeling of skin since the age of 1 month, predominantly seen over limbs and trunk, often associated with secondary infection. His mother also had similar symptoms from childhood. On examination, the child had typical mauserung peeling of the skin and dirty gray hyperkeratosis in a rippled pattern over flexures. Skin biopsy from the boy showed intracorneal blistering with epidermolytic hyperkeratosis in the upper spinous layers. The typical history and clinical features along with characteristic histological findings confirmed our diagnosis of ichthyosis bullosa of Siemens. It must be differentiated from other conditions with epidermolytic hyperkeratosis and skin peeling, such as bullous ichthyosiform erythroderma of Brocq and peeling skin syndrome. Our patient responded well to 0.05% topical tazarotene gel over four weeks.     

典型幼年型毛发红糠疹1例

患儿男,9岁,全身泛发红斑、细碎鳞屑18个月,家族中无类似患者。左下肢组织病理示:角化过度,角质层内水平及垂直方向交替存在着角化过度和角化不全,颗粒层增厚,棘层不规则肥厚,基底层细胞液化变性,真皮内有轻度淋巴细胞浸润。诊断:毛发红糠疹。     

Pachyonychia Congenita Type 1: Case Report and Review of the Literature

The case of an 8-year-old boy is hereby reported, who presented with nail dystrophy, subungual hyperkeratosis, oral leukokeratosis, and numerous follicular papules all over the body. The features were consistent with a diagnosis of pachyonychia congenita type 1. The case is being reported for its rarity. We also discuss in a nutshell, the literature till date.     

Treatment of the Poikilodermatous Component of the Rothmund-Thomson Syndrome with the Flashlamp-Pumped Pulsed Dye Laser: A Case Report

The Rothmund-Thomson syndrome is a rare disorder characterized by poikiloderma, juvenile cataracts, bone abnormalities, short stature, sparse hair, hypogonadism, defective dentition, nail dystrophy, hyperkeratosis, and mental retardation. A 12-year-old boy with the syndrome was referred to us for evaluation and treatment of poikiloderma. This component of the disease was markedly improved with the use of pulsed dye laser photocoagulation.     

Lichen spinulosus with immunofluorescent studies

A typical case of lichen spinulosus in a 15-year-old boy is described. Keratotic papules and plaques occurred on the knees, elbows, and lower legs. A biopsy showed follicular hyperkeratosis consistent with lichen spinulosus. Studies for immunofluorescence demonstrated linear IgM at the basement membrane zone without colloid bodies. The relationship of lichen spinulosus and lichen planus is discussed. The patient responded to treatment with a salicylic acid gel.     

局限性血管角皮瘤并发血管脂肪瘤1例

报告1例局限性血管角皮瘤并发血管脂肪瘤。患儿男,13岁。左足内踝部出现黑褐色角化性斑块及结节13年。皮损组织病理学检查示:表皮角化过度,棘层不规则肥厚,乳头瘤样增生,真皮乳头层及浅层毛细血管增生及扩张,内皮细胞增生。真皮深层及皮下脂肪层可见脂肪组织增生,脂肪小叶内可见大量血管增生,以毛细血管样小血管为主,内皮细胞增生。     

An unusual nail presentation in Marfan's syndrome

Skin and nail lesions are very rare in Marfan's syndrome. We reported a 14-year-old boy who presented with pterygium in the nails of both the upper and lower limbs with chest deformity along with other features of Marfan's syndrome. Histopathological findings revealed hyperkeratosis with a scant perivascular inflammatory infiltrate. It was not clear whether this case is the first presentation of pterigium in Marfan's syndrome or congenital lichen planus. To our knowledge, this kind of feature is the first Marfan's syndrome case of its kind.     

Childhood-onset Pityriasis Rubra Pilaris with Immunologic Abnormalities

We examined a 6-year-old boy with seborrheic dermatitis like redness of the face, scaling of the scalp, and palmoplantar keratoderma. Skin biopsy showed hyperkeratosis, parakeratosis, follicular plugging, and mild upper dermal perifollicular mononuclear inflammatory infiltrate, which are compatible with the diagnosis of pityriasis rubra pilaris. Immunologic studies revealed normal values of peripheral B and T lymphocytes. The spontaneous activity of T suppressor cells was activated and the function of T helper cells was impaired, however.     

节段性皮肤僵硬综合征一例

患儿,男,8岁。因右侧股部、臀部及腰部皮肤触之僵硬8年就诊。患者皮损呈单侧分布,伴有轻度多毛和色素沉着。病理活检示表皮过度角化,基底层色素增加,真皮中层胶原纤维增粗、致密,呈均质化,无炎症细胞浸润,附属器未见异常。阿新蓝染色呈阳性。综上诊断为节段性皮肤僵硬综合征。     

A case of erythromelanosis follicularis faciei with a unique distribution

A 16-year-old Japanese boy with erythromelanosis follicularis faciei (EFF) with an unusual distribution is described. The clinical features of classic EFF consist of reddish-brown discoloration of the skin with fine follicular hyperkeratosis in the preauricular areas, and occasionally on the temples and the lateral aspects of the neck. The present case is unique in that similar lesions also occurred on the auricles and eyebrows. Both light and electron microscopic findings of the lesions were consistent with the diagnosis of EFF.     

Epidermolytic hyperkeratosis

A 13-year-old boy presented to the dermatology clinic for treatment of a congenital ichthyosis with a history of generalized erythroderma and trauma related blistering at the time of birth. At the time of presentation he was noted to have red corrugated hyperkeratotic plaques involving the joint flexures, dorsal hands, and neck. Epidermolytic hyperkeratosis is a rare autosomal dominant genodermatosis that presents at birth with generalized erythema, blisters and erosions. In the subsequent months after birth erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet. The disease is caused by mutations in either keratin 1 or keratin 10. Treatment options include urea or alpha-hydroxy acid containing creams as well as topical and systemic retinoids. Epidermolytic hyperkeratosis is also known as bullous congenital ichthyosiform erythroderma (of Brocq) and disorder of cornification type 3.     

Oculocutaneous tyrosinaemia or tyrosinaemia type 2: a case report

Oculo-cutaneous tyrosinaemia type II is an autosomal recessive disease due to an abnormality of tyrosine metabolism, probably because of a deficiency of cytoplasmic tyrosine aminotransferase. It presents as a varying association of focal palmoplantar keratosis, bilateral keratitis and mental retardation. Herein, we report an 8-year-old boy with palmoplantar hyperkeratosis with peripheral oozing and dendritic keratitis appearing after the skin lesions. There was no mental deterioration despite the long delay in diagnosis of the disorder. The diagnosis was confirmed by the presence of hypertyrosinaemia and the absence of hepatorenal lesion. The child exhibited a remarkable degree of improvement in the hyperkeratotic lesions and keratitis after the dietary modifications were instituted. In conclusion, chronic focal bullous palmoplantar hyperkeratosis along with keratitis should alert the clinician to screen for abnormal serum and/or urine tyrosine level. Awareness of the presenting signs and symptoms may speed up the diagnosis and initiation of a tyrosine and phenylalanine-restricted diet that is most efficient in improving the symptoms and preventing visual and cognitive impairment.     

先天性角化不良1例及家系调查

报告1例先天性角化不良并附家系调查报告。先证者男,9岁。全身呈网状棕黑色色素沉着,LI腔黏膜白斑,牙齿排列不整齐,20甲营养不良。皮损组织病理检查示：表皮轻度角化,棘层明显变薄,基底层色素增加,真皮上部有较多噬黑素细胞。血染色体G带分析结果示：核型为46．XY,染色体正常。家族中另有3例男性患此病,其中2例已故。     

进行性血管淋巴管瘤1例及其皮肤镜、共聚焦显微镜特征

患者男,12岁,左股外侧簇集性暗红色丘疹2年余,逐渐增多.皮损组织病理示:轻度角化过度,棘层轻度肥厚,真皮浅层多发扩张血管和淋巴管,部分可见红细胞和蛋白样物质;皮肤镜下可见淡红色背景上界限清楚,大小不等的,圆形或椭圆形棕红色斑,散在黑褐色斑;共聚焦显微镜下可见真皮浅层多发大小不等低折光腔隙,腔隙内缘光滑平整,有些腔内一...     

Costello syndrome with decreased gene expression of elastin in cultured dermal fibroblasts

We report a case of Costello syndrome. A 2-year-old Japanese boy presented with a 'coarse' face, curly hair and loose skin of the dorsal aspect of the hands and feet with dark pigmentation. A skin biopsy of the dorsal aspect of the left hand revealed hyperkeratosis and papillomatosis of the epidermis, hyperpigmentation of the basal layer, and shortening and rupture of elastic fibers of the dermis. Electron microscopy of dermal elastic fibers showed a decreased amount of elastin with an exposed appearance of microfibrils. In Northern blot analysis of cultured dermal fibroblasts, elastin mRNA levels were reduced, suggesting a decrease in elastin production at the lesions of loose skin.     

Vitamin a deficiency phrynoderma associated with chronic giardiasis

Phrynoderma is a rare form of follicular hyperkeratosis associated with deficiencies in vitamins A or C or essential fatty acids. We report a 6-year-old boy with an unusual presentation of phrynoderma, characterized by multiple minute digitate hyperkeratoses associated with hair casts and related to a severe deficiency in vitamins A and C complicating a chronic intestinal giardiasis. The lesions responded well to oral vitamins A and C combined with albendazole treatment. Vitamin A deficiency-related phrynoderma is rare in western countries and is usually caused by digestive malabsorption resulting from large intestine resection or pancreatic failure. To our knowledge, this is the first reported instance of phrynoderma related to a chronic intestinal parasitic infection by Giardia intestinalis with intestinal malabsorption as a likely consequence.     

Poikiloderma of Theresa Kindler: Report of a Case with Ultrastrectural Study, and Review of the Literature

Kindler's syndrome occurred in a 13-year-old boy with parental consanguinity. The patient had acral congenital blistering and photosensitivity, both regressive, at 12 years of age, together with diffuse progressive poikiloderma, marked cutaneous atrophy, mild hyperkeratosis of the palms, gingival hypertrophy and fragility, and anal stenosis. The ultrastructural study of bullae induced by rubbing showed clefts in three levels of the dermoepidermal junction zone. A review of 14 cases in the literature consistent with Kindler's syndrome showed this to be a definite clinical entity among the other bullous hereditary poikilodermas. In two cases, ultrastructural studies showed intraepidermal, junctional, and dermal cleavage. This syndrome must be differentiated from congenital epidermolysis bullosa, Weary's syndrome, and the other bullous hereditary poikilodermas.     

曲尼司特治疗泛发性肥大细胞增生病1例

报告曲尼司特治愈泛发性肥大细胞增生病1例,患儿男,6岁,面部,躯干,四肢广泛分布许多绿豆至黄豆大的斑丘疹和丘疹,部分为小结节或增生性瘢痕样皮损,明显高出皮面,呈圆形,椭圆形或不规则形,大多呈棕红色或棕褐色,组织病理检查示表皮角化过度伴角化不全,真皮浅,中层及附属器周围见致密的肥大细胞和少许嗜酸性粒细胞浸润,诊断为泛发性肥大细胞增生病,单用曲尼司特口服至第110天时,除留有少许点状色素沉着外,面部,躯干,四肢的皮损全部清退,服药期间未见不良反应,停药后随访6个月无复发。