表皮松解角化过度性鱼鳞病1例

患者男,23岁,全身皮肤潮红、粗糙、水疱和脱屑23年。皮损组织病理示:表皮角化过度,颗粒层增厚,颗粒层细胞内含大量透明角质颗粒,细胞核皱缩,核周空泡化,细胞边界不清,形态不规则,呈表皮松解性角化过度改变。诊断:表皮松解角化过度性鱼鳞病。     

可变性红斑角化症1家系

可变性红斑角化症是以可变性红斑和皮肤角化过度为主要特征的罕见遗传性皮肤病。目前的研究认为突变基因主要是GJB3和GJB4。本患者女,22岁,四肢红斑、脱屑18年。皮肤科情况:四肢伸侧及双足背可见大片红色对称性角化性斑片,以双下肢为重,边缘清晰,形状不规则。皮损组织病理示:表皮角化过度,颗粒层及棘层增厚,真皮浅层有淋巴细胞浸润。诊断:可变性红斑角化症。家族中可追溯到有5人有相类似症状。针对目前热点突变基因GJB3和GJB4进行直接测序,未发现突变。     

板层状鱼鳞病二例

2例具有板层状鱼鳞病的典型皮损,全身皮肤灰褐色或灰棕色鳞屑,呈菱形、多角形或成大片,中央黏着,边缘游离高起,部分厚如铠甲.2例均有不同程度的眼睑、唇外翻及掌跖中度角化过度.例2皮损组织病理检查:角化过度,棘层及颗粒层增厚,表皮突延长,真皮浅层血管周围少量炎性细胞浸润.2例均口服阿维A胶囊,经尿素乳膏及鱼肝油软膏外用后,症状较前缓解.     

慢性医源性砷角化病1例

患者男,43岁。全身皮肤弥漫性色素沉着5年余,双手及足跖疣状角化3年余。前胸皮损组织病理检查示:表皮皮突延长,基底层色素增加。真皮浅层血管周围较多淋巴细胞、噬色素细胞浸润;手掌皮损组织病理检查示:表皮显著角化过度,颗粒层、棘层肥厚。真皮浅层血管周围少量淋巴细胞浸润。诊断:慢性医源性砷角化病。治疗后有好转,现仍在随访中。     

泛发性炎症型表皮痣1例

报告1例泛发性炎症型表皮痣。患者女,21岁,全身泛发角化过度性丘疹和斑块20年。组织病理示表皮角化亢进及部分角化不全,颗粒细胞层明显增厚,棘层上部和颗粒层细胞核周围出现空泡及许多大而不规则的透明角质颗粒。基底细胞层未见明显异常,真皮毛细血管增生扩张,真皮浅层血管周围散在灶状淋巴细胞浸润。诊断为疣状痣,予以阿维A胶囊口服,已取得一定疗效。     

泛发性炎症型表皮痣1例

报告1例泛发性炎症型表皮痣。患者女,21岁,全身泛发角化过度性丘疹和斑块20年。组织病理示表皮角化亢进及部分角化不全,颗粒细胞层明显增厚,棘层上部和颗粒层细胞核周围出现空泡及许多大而不规则的透明角质颗粒。基底细胞层未见明显异常,真皮毛细血管增生扩张,真皮浅层血管周围散在灶状淋巴细胞浸润。诊断为疣状痣,予以阿维A胶囊口服,已取得一定疗效。     

表皮松解性掌跖角化病1例

报告1例表皮松解性掌跖角化病。患者女,26岁。双侧掌跖角化20余年。皮肤科检查见双侧掌跖对称性角化性斑块。皮损组织病理检查示表皮角化过度,颗粒层增厚,棘层及颗粒层中有较多裂隙,裂隙处细胞界限不清,由淡染物质或透明角质颗粒组成。组织病理改变符合表皮松解性掌跖角化病诊断。采用阿维A治疗后皮损明显改善。     

残毁性掌跖角皮症1例

患者男,33岁。掌跖皮肤进行性角化30年,双足小趾缩窄16年,左足小趾破溃疼痛10余天就诊。左足小趾皮损组织病理示:表皮呈假上皮瘤样增生,角化过度,颗粒层增厚,棘层肥厚。诊断:残毁性掌跖皮症。     

Meleda角化病1例

患者男,18岁。双侧掌跖部位皮肤增厚伴红斑、瘙痒17年,缓慢加重12年余。皮损表现为双侧手掌及足底可见广泛、对称性黄色角化性斑块,其间见大小不等、形状不规则的红斑,上覆白色鳞屑;双手掌侧及双足跖皮肤对称性粗糙、增厚,基底红色,上覆较多白色鳞屑,境界清楚;双足第4、5趾缝间皮肤浸渍发白,伴异味;双足趾甲变形、增厚呈暗黄色,无多汗。皮损组织病理示:皮肤角化亢进,角质层增厚,颗粒层及棘层均增厚,真皮上部血管周围可见少数淋巴细胞。基因检测示:患者为SLURP-1基因c. 256G A(p. G86R)和c. 212G A(p.R71H)复合杂合变异。诊断:Meleda角化病。     

进行性对称性红斑角化症1例

患者女,13岁。双下肢皮损伴痒痛5年余。查体:一般情况良好;臀部及双侧股内侧、膝部、小腿下段及足背对称分布红色角化性斑块,双手背散在淡红色丘疹及斑块。皮损组织病理示:表皮显著网篮状角化过度,局灶性角化不全,颗粒层增厚,棘层肥厚,真皮浅层血管周围轻度淋巴细胞浸润。诊断为进行性对称性红斑角化症。     

CRUSTED SCABIES: AN UNUSUAL CLINICAL MANIFESTATION

The patient, a 40-year-old Brazilian woman, was admitted to the Pernambuco Federal University Hospital with a dry extensive crusted eruption on her skin. She had a history of uterine carcinoma that had been treated by radiotherapy 3 years before. She had been losing weight for the past few years. The patient's husband had ordinary scabies, and the family history revealed other affected members. Her bed linen was always covered with scales.
Physical examination revealed generalized cutaneous erythema and scaling. The palms were markedly hyperkera-totic (Figs. 1 and 2). This caused discomfort under pressure. There was a mild pruritus and her nails were abnormal. No burrows or vesicles were seen.
Laboratory studies revealed the following: anemia and eosinophilia of 12%. Immunoglobulins were normal. Her cel-lular immunity was diminished. Sensitivity to dinitrochloro-benzene and reactivity to intradermal injection of tuberculin, trichophytin, and candidin were negative. Direct light mi-croscopy of thick scales showed a large number of Sarcoptes mites and numerous eggs. Microscopic examination of a biopsy specimen showed hyperkeratosis, acanthosis, and a chronic inflammatory infiltrate composed predominantly of lymphoid cells. The horny layer was riddled with innumer-able mites.
The patient was treated with a 20% urea ointment and 1% lindane lotion. The skin condition was significantly im-proved after a 5-day treatment with keratolytic ointment (2 times a day) and antiscabic lotion applied at night to the whole skin for a period of 5 days. Throughout the hospital stay she remained in good health and was discharged 10 days after admission with her dermatologic problem com-pletely cured (Fig. 3).
Four months later the patient died due to a cerebral metastatic carcinoma.     

Lung carcinoma with congenital plantar keratoderma as a variant of Clarke-Howel-Evans syndrome

A 32-year-old man was admitted to the Magdeburg University Hospital with icterus and for further diagnosis of suspected hepatitis. He also complained of generalized pruritus, abdominal pain, nausea, and diarrhea. The patient's history revealed the excision of a lymph node metastasis of the left groin showing pleomorphic macrocellular infiltrates, 2 months previously. The patient presented to our department with prominent hyperkeratosis of both feet, which had been present since early youth. The family history was negative. Both soles showed very thick, white and blackish hyperkeratosis with predominance of the heels and the forefeet (Fig. 1). The naturally occurring wrinkles of the skin of the toes were flattened. The palms were not affected, and neither was the oral mucosa. Further investigations revealed icterus of the sclera and multiple, firm tumors, which were located in the deep subcutaneous tissue, on the left hip, thigh, and buttock. From thorough clinical, laboratory and staging investigations, a non-small-cell bronchogenic carcinoma, with metastases of the liver, kidneys, adrenal glands, and several skin sites, was diagnosed. A skin biopsy specimen of the foot showed substantial acanthosis of the epidermis with hypergranulosis and excessive orthohyperkeratosis. The corneocytes were enlarged and arranged in a tile-like pattern (Fig. 2). The dermis was free of inflammatory infiltrates and human papillomavirus infection was ruled out by immunohistochemistry. Polychemotherapy was immediately started with 5-fluorouracil, mitomycin, and cisplatin, which was well tolerated. When the patient was admitted for the second cycle, however, his general health had worsened markedly. He complained of abdominal pain, severe weight loss, and nausea. Generalized metastases showed substantial progression. Chemotherapy could not be continued because of a Karnowsky index below 20%. The patient died 2 weeks later.     

Generalized epidermolytic hyperkeratosis in a child born to a parent with systematized epidermolytic linear epidermal nevus

A 5-month-old girl was born with generalized erythematous skin covered with fine scales. Two days after she was born blisters started appearing over several places on the skin, resulting in multiple denudations. Later, over a period of 2–3 weeks, her skin started becoming rough, thickened, and covered with verrucous scales. The patient is the product of a full-term normal delivery, is born to nonconsanguinous parents, and had normal developmental milestones. None of her family members had had similar episodes, although her father had had verrucous linear epidermal nevus since his childhood. On examination her entire skin was erythematous, thickened, and covered with rough verrucous scales arranged in a rippled pattern (Fig. 1a), more prominent in the flexural areas. Multiple erosions and a few flaccid vesicles and bullae were seen over the trunk and extremities (Fig, 1b), and islands of normal-looking skin were seen over the recently healed erosions. Scales were less marked over the face. Mucous membranes, skin appendages, palms, and soles were not affected. The rest of her systemic examination revealed no other abnormality. Routine laboratory investigations including haemogram, Veneral Disease Research; Laboratory test (VDRL), and radiologic skeletal survey were normal. Histopathologic examination of the lesional skin and also the normal-looking skin revealed the picture of epidermolytic hyperkeratosis showing features of hyperkeratosis and hypergranulosis with prominent vacuolar degeneration of the upper epidermis extending to the middle of the stratum spinosum (Fig. 2), Dermis was normal but for a mild edema and nonspecific perivascular inflammatory infiltrate. Dermatologic evaluation of her father revealed bilateral, asymmetric, thick, warty papules, and plaques arranged in a linear pattern following the lines of Blaschko over the trunk and extremities (Fig. 3), The rest of the skin and systemic examination was normal. A skin biopsy of the verrucous plaque over the back showed typical features of epidermolytic hyperkeratosis similar to his daughter (Fig. 4), and normal histology was observed from the skin section obtained from normal-looking skin.     

Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis

Since 1994, four cases of epidermal nevus with epidermolytic hyperkeratosis (EH) caused by keratin 10 gene mutations have been reported, although no keratin 1 (K1) gene mutation has yet been reported. We detected a K1 gene (KRT1) mutation in epidermal nevus with EH in a 10-year-old Japanese male. The patient showed well-demarcated verrucous, hyperkeratotic plaques mainly on the trunk, covering 15% of the entire body surface. No hyperkeratosis was seen on the palms or soles. He had no family history of skin disorders. His lesional skin showed typical granular degeneration and, ultrastructurally, clumped keratin filaments were observed in the upper epidermis. Direct sequence analysis of genomic DNA extracted from lesional skin revealed a heterozygous 5' donor splice site mutation c.591+2T>A in KRT1. This mutation was not detected in genomic DNA samples from the patient's peripheral blood leukocytes or those of other family members. The identical splice mutation was previously reported in a family with palmoplantar keratoderma and mild ichthyosis, and was demonstrated to result in a 22 amino-acid deletion p.Val175_Lys196del in the H1 and 1A domains of K1. To our knowledge, the present patient is the first reported case of epidermal nevus associated with EH caused by a K1 gene mutation in a mosaic pattern.     

有家族史的Vohwinkel残毁性掌跖角皮症一例并文献复习

报告1例女性16岁Vohwinkel残毁性掌跖角皮症患者。掌跖部渐进性角化过度病史16年,双手足第五指、趾戒指状紧缩环2年。X线片示局部骨质异常。无鱼鳞病,听力正常,其父有类似疾病史。     

Severe retention hyperkeratosis occurring with Susac syndrome

A 50-year-old woman presented for asymptomatic yellow hyperkeratotic plaques limited to her face. The plaques reportedly arose over the six months prior to her clinic visit. She was healthy prior to the diagnosis of Susac syndrome (retinocochleocerebral vasculopathy) two years before. A punch biopsy was performed and revealed retention hyperkeratosis. Retention hyperkeratosis is a benign and commonly seen skin condition in primary care and dermatology. Retention hyperkeratosis occurs when there is abnormality of routine desquamation that can be associated with poor hygeine. It can be associated with acne or ichthyosis. Our case of retention hyperkeratosis is unique because of the profound presentation in a setting of an untreated psychiatric condition. Treatment consisted of daily topical exfoliative care. We also encouraged her family members to help her to seek medical attention for Susac syndrome.     

Verrucous form of chilblain lupus erythematosus

A 45-year-old woman had symmetrical livid plaques with yellowish hyperkeratoses for 5 years, which progressed on to the fingers and toes and on the soles of the feet. Two years later creamy, whitish areas and maceration appeared on the buccal mucosa and the lips. A skin biopsy revealed massive collagen hyaline degeneration in the perivascular area, hyperkeratosis and hypergranulosis, small lymphocyte infiltrates with several melanophages and extravasates of erythrocytes in the upper corium in perivascular areas and hydropic degeneration of basal keratinocytes. The findings using direct immunofluorescence were compatible with lupus erythematosus (LE). Laboratory investigation showed a slight leucopenia and thrombopenia, a slightly elevated erythrocyte sedimentation rate, hypocomplementaemia C3 and C4, a high titre of rheumatoid factor and antinuclear antibodies positivity of extractable nuclear antigen. The results reflected probably the development of a systemic form of the disease. The patient was successfully managed by methylprednisolone and hydroxychloroquine. After 1 year of therapy, a new skin biopsy revealed a substantial reduction of hyperkeratosis and hyaline degeneration of collagen tissue in the perivascular areas. The combination of the extensive hyperkeratosis and hyalinization thus seems to be features of the long-lasting, untreated lesions in chilblain LE.     

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.     

Unilateral nevoid hyperkeratosis of the nipple: a report of two cases

Nevoid hyperkeratosis of the nipple and areola is an unusual condition. Two female patients aged 31 and 18 years presented with chronic unilateral warty lesions of the nipple. One patient had difficulty in breastfeeding from the affected side. A skin biopsy showed acanthosis, hyperkeratosis, papillomatosis and lymphocytic infiltrate in the dermis. There was no significant improvement with topical tretinoin cream in both the patients.     

Use of the frozen section ‘jelly‐roll’ technique to aid in the diagnosis of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis)

Frozen section is a valuable tool that is often underutilized in the setting of in‐patient dermatology. Traditionally, frozen section has been used in dermatology to diagnose toxic epidermal necrolysis, with some additional utility in staphylococcal scalded skin syndrome in the new born period. We report a newborn female with ruptured bullae on the face, chest, back and extremities with a clinical differential diagnosis that included staphylococcal scalded skin, bullous congenital ichthyosiform erythroderma/epidermolytic hyperkeratosis and epidermolysis bullosa. A thin detached skin sample (‘jelly‐roll’) taken from a ruptured bulla on the abdomen was prepared for frozen section analysis. Characteristic findings of epidermolytic hyperkeratosis were seen which included hyperkeratosis with granular layer degeneration, vacuolization and eosinophilic globules. The ‘jelly‐roll’ technique can be used for quick diagnosis with minimal trauma to the patient. Epidermolytic hyperkeratosis was subsequently confirmed by a biopsy fixed in formalin and by genetic testing. A novel missense mutation in KRT1 (I479N) was identified. Herein, we discuss the use of the frozen section ‘jelly roll’ technique for rapid diagnosis in a case of bullous congenital ichthyosis erythroderma/epidermolytic hyperkeratosis.