角化性皮肤病

20 0 30 2 74　点状掌跖角皮病一家 5例 /崔玲 (四军大西京医院皮肤科 )…∥临床皮肤科杂志 .- 2 0 0 2 ,31(7) .- 46 8～ 4 6 9先证者 ( 5)男 ,4 3岁 ,掌跖斑点状黄色透明状角化丘疹 10余年。皮损渐增多、增厚 ,致掌面凹凸不平 ,自觉手掌发木 ,足部行走久后疼痛。家族史 :先证者的外祖母 (已故 )、母亲 (已故 )、兄弟 3人 ,3代有 5人发病 ,发病年龄均在 30岁以后 ,持续终身不退。组织病理示皮损处显著角化过度 ,排列致密 ,形成大的角质栓 ,角栓下方生发层呈杯状凹陷 ,颗粒层及棘层肥厚。本病是一种罕见的常染色体显性遗传病 ,目前尚无特效…     

点状掌跖角皮病一家5例

先证者（Ⅲ5）男，43岁，掌跖斑点状黄色透明状角化丘疹10余年。皮损渐增多，增厚，致掌面凹凸不平，自觉手掌发木，足部行走久后疼痛。家族史：先证者的外祖母（已故）、母亲（已故）、兄弟3人，3代有5人发病，发病年龄均在30岁以后，持续终身不退。组织病理示皮损处显著角化过度，排列致密，形成大的角质栓，角栓下方生发层呈杯状凹陷，颗粒层及棘层肥厚。     

点状掌跖角皮症1家系

点状角皮症1家系4代共34人,患者6人,其中男3例,女3例,属常染色体显性遗传。先证者女,汉族,59岁,农民,34年前开始出现双手掌及双足跖半透明、角化性丘疹,质硬。皮损数目逐年增多,部分丘疹相互融合,尤以双足跖部为著。     

显性营养不良型大疱性表皮松解症一家系调查

报告1例显性营养不良犁大疱性表皮松解症患者的家系调查结果.先证者男,43岁.双小腿水疱、丘疹伴瘙痒33年.皮损组织病理学表现为表皮下裂隙形成,真皮中上部有角质囊肿形成.该家系5代35名成员中有该病患者10例(男4例,女6例),属常染色体显性遗传.     

弥漫性掌跖角化病1例及家系调查

1临床资料先证者男,42岁。双足跖对称性角化增厚37年。37年前双足跖部开始出现角质增厚,无疼痛和瘙痒,逐渐发展至全足底角质增厚,界清,无压痛及其他不适,曾以胼胝自行修剪,不久即复发,未予处理。     

掌跖棘状角皮症——一见难忘

本文介绍了1例83岁的男性患者,掌跖角化性丘疹病史5年,症状为在手掌出现长度为1～2mm,直径为0．5～1．5mm不等的角化性丘疹,脚掌相同皮损较少,未接受治疗,无家族病史。患者既往患有肺石棉沉着病（职业病）、2型糖尿病、高血压、高胆固醇血症、阵发性房颤、进行性慢性肾功能衰竭。自2004年以来,患者一直在皮肤科治疗复发性非黑色素瘤皮肤癌症。     

199 遗传性掌跖角皮症的表皮松解变型

先证者为—58岁男性白种人,在其一生中有掌跖皮肤增厚,冬季还伴有疼痛性皲裂。物理检查掌跖显示网状形的角化过度,在手掌则更易见到不规则的红斑边缘,指趾间关节有轻度缩窄但无假性趾(指)断症,其它部位皮肤、头发、甲及牙无异常。他的28岁女儿及其4岁的外孙儿自出生后一月即有类似皮损,但较先证者轻。右掌皮肤活检显示大片正角化过度,表皮呈银屑病样增生,颗粒层高位处有大量不规则的透明角质颗粒,颗粒层及棘层上方细     

白色丘疹样营养不良型大疱性表皮松解症一家系报告

报告白色丘疹样营养不良型大疱性表皮松解症一家系。先证者男 ,3 5岁 ,头颈、躯干、四肢出现红色丘疹、结节、瘙痒 3 0年。家族 4代 2 0人中 11人患类似疾病。该家族有发病年龄越小病情越重 ,男性发病率高于女性等特点。     

先天性甲肥厚症Ⅰ型一家系调查

报告先天性甲肥厚症一家系,4代17人中有8人患病,8例患者均于出生后不久即有甲变色,继而甲增厚．2-4岁时出现掌跖角化,局部摩擦后可发生水疱和糜烂。部分患者有舌苔白腻,所有患者均未见胎生齿及脂囊瘤。先证者双肘膝关节毛囊角化性丘疹,足趾及跖部灶性胼胝样角化过度,20甲营养不良。该家系中有2例患者2岁时因突发急性呼吸困难抢救无效而死亡。     

遗传性掌跖角化病二例

例1女，36岁，纺织工人。掌跖出现角化性丘疹5年，无明显自觉症状。皮损从未消退，渐增多。患者外公、母亲、哥哥及舅舅、表兄弟均有类似皮损位于上述部位。且自诉男性亲属患者因长期体力劳动，掌跖部位丘疹表面角化明显、质硬。体检：各系统未见明显异常。     

Lichen nitidus of palms and soles

Lichen nitidus occurs uncommonly on the palms and soles and has an unusual morphology at these sites. Two patients who presented with lesions on the palms and soles are reported. The first patient had rough papules with prominent keratotic plugs. In the second patient, the lesion was an irregular plaque with peripheral papules showing keratotic plugs. Both patients had typical lesions elsewhere on the body. Histopathology confirmed the diagnosis. Awareness of this variant will help in prompt recognition of the condition.     

Two cases of squamous cell carcinoma arising from erythema ab igne

This report describes two female patients, 69 and 79 years old, with squamous cell carcinoma (SCC) developing from erythema ab igne (EAI) due to thermal irradiation from a sunken hearth (irori in Japanese) or an underfloor brazier covered with a quilt (kotatsu in Japanese). EAI on the knees and lower thighs showed reticular pigmentation at its periphery and poikiloderma in the center with many keratotic nodules. In both cases, the SCCs were located almost symmetrically on an anterior site 1/3 of the way down both lower thighs. They were surrounded by many keratotic nodules. Histologically, these nodules showed an atypia of the epidermal cells, indicating carcinoma in situ resembling actinic keratosis ro Bowen's disease. It was also strongly suggested that the SCCs in these patients had developed from the keratotic nodules. EAI appeared to have played a pathogenetic role in the cutaneous carcinoma.     

Immunohistochemical staining for the differentiation of subungual keratoacanthoma from subungual squamous cell carcinoma

Background.  Subungual keratotic tumours are rare. The clinical and histological distinctions between subungual keratoacanthomas (SUKAs) and subungual squamous cell carcinomas (SCCs) are important, but often difficult. Adequate methods of differentiation between the two are required, both for the purpose of management and for assessment of prognosis.
Aim.  To establish the value of immunohistochemical staining patterns of proliferating cells to distinguish between SUKAs and subungual SCCs.
Methods.  In total, 20 keratotic tumours from 20 patients were examined with immunohistochemical staining techniques using bcl- 2, Ki67 and p53.
Results.  Of 20 patients, 4 had SUKAs, 5 had cutaneous KAs, 6 had subungual SCCs and 5 had cutaneous SCCs. Our results showed that a high index of staining of p53 favours the diagnosis of subungual SCC over SUKA.
Conclusion.  SUKAs do not express Ki67 strongly whereas some subungual SCCs do. Thus we conclude that immunohistochemistry for p53 and Ki67 may help distinguish between a subungual SCC and a SUKA.     

成人炎性线状疣状表皮痣1例

患者男,40岁。手部角化性丘疹5年。查体见左手手背、中指及无名指背角化性丘疹,沿Blaschko线分布至肘关节,表面角化性鳞屑;无名指及中指远端指关节变形不能伸展。组织病理符合炎性线状疣状表皮痣。     

Mosaic acral keratosis

We describe two patients with acral keratosis with a striking mosaic or jigsaw-puzzle pattern of keratotic papules on the dorsal aspects of the feet and adjacent parts of the legs. Both patients also showed mild diffuse palmoplantar keratosis and clavus-like lesions over the interphalangeal joints of the toes; one patient also had keratotic papules on the hands and hyperkeratotic plaques over the knees. The differential diagnosis of acral keratoses, including several recently described forms, is briefly discussed.     

Sunlight, keratotic skin lesions and skin cancer in renal transplant recipients

In a retrospective follow-up study, 36 renal transplant recipients with, and 101 without, skin cancer, who had received their first transplant before January 1981 and who were still alive with a functioning graft on 1 August 1989, were assessed to determine the risk of non-melanoma skin cancer in relation to exposure to sunlight during childhood and adolescence. The contribution of the number of keratotic skin lesions to the skin cancer risk was also assessed. The estimated relative risks (odds ratios) of skin cancer in relation to exposure to sunlight and the presence of keratotic skin lesions were calculated by maximum likelihood estimation in a logistic model. The majority of skin cancers and keratotic skin lesions were confined to sun-exposed skin. After adjustment for possible confounding variables, the odds ratios of skin cancer for moderate and high cumulative life-time exposure to sunlight, respectively, compared with low exposure, were 2·4 (95% confidence interval [CI] 0·64-9·3) and 47·6 (95% CI 5·4-418). Exposure to sunlight before the age of 30 contributed more to the risk of developing skin cancer later in life than exposure after the age of 30. No association was found between cumulative life-time exposure to sunlight and the number of keratotic skin lesions. Nevertheless, these lesions behaved as a strong independent risk factor in the development of skin cancer. The adjusted odds ratio of skin cancer for 50-99 lesions compared with >50 lesions was 4·5 (95% CI 1·1-18·2); the adjusted odds ratio for ≥100 lesions compared with >50 lesions was 20·8 (95% CI 5·3-81·7). We conclude that exposure to sunlight before the age of 30 contributes more to the risk of skin cancer in renal transplant recipients than exposure after the age of 30. Cumulative life-time exposure to sunlight does not appear to be associated with an increased number of keratotic skin lesions in these patients. The preferential localization of such lesions on sun-exposed skin suggests a possible role of recently received exposure to sunlight in the development of these lesions.     

Granular parakeratosis presenting with facial keratotic papules

A 27-year-old female presented with pruritic keratotic papules over the left side of the face since one month. The lesions developed a few days after working in a hot humid environment and were preceded by severe uncontrollable pruritus for which she had repeatedly wiped the area with handkerchiefs and towels. A biopsy from one of the keratotic papules revealed granular parakeratosis with a markedly thick stratum corneum that had parakeratosis and also housed keratohyaline granules. Similar changes were seen in keratotic plugs of dilated follicular infundibula.     

Epidermal dysplasia and skeletal deformity in congenital poikiloderma (Rothmund-Thomson syndrome)

Two sisters with congenital poikiloderma (Rothmund-Thomson syndrome) are described. One sister developed numerous keratotic lesions on the skin at an early age; these showed histological, ultrastructural and autoradiographic features of dysplastic change. The second sister had severe skeletal involvement in addition to the cutaneous poikiloderma, but no keratotic lesions. The clinical features of these cases demonstrate the variation in phenotypic expression of this disorder within a single family.     

毛囊角化病ATP2A2基因突变二例及家系调查

【摘要】 例1男，16岁，面部、颈部及双腋下见密集褐色毛囊角化性丘疹，部分融合成斑块，局部可见疣状增生；母亲与其有相似的病史及临床表现。例2男，21岁，头面部、颈部、躯干、双腋下及臀部见弥漫性毛囊角化性丘疹，部分融合成片，局部可见疣状增生；家族成员均无类似症状。例2颈部皮损组织病理：表皮角化过度伴灶状角化不全，棘层部分区域棘刺松解并有腔隙形成，可见绒毛、圆体和谷粒细胞，真皮浅层炎症细胞浸润。2例患者及其父母基因检测：例1及母亲ATP2A2基因存在第15外显子c.2300A>G错义突变；例2第15外显子与第15内含子交界处存在c.2097+5G>A 剪切区域突变。2例患者其他家族成员未见上述突变。     

Trichilemmomal horn: cutaneous horn overlying trichilemmoma

Four patients had keratotic, horn-shaped growths on the face or scalp. Histologically, each showed massive, largely orthokeratotic horn with a trichilemmoma at the base. Trichilemmomal horn (cutaneous horn overlying trichilemmoma) must be differentiated from trichilemmal horn, a cutaneous horn that shows trichilemmal rather than epidermoid keratinization.