Rothmund-Thomson's syndrome--a case demonstrating prominent hyperkeratosis and literature review

A patient, 21-year-old japanese man demonstrating many of the changes seen in the Rothmund-Thomson's syndrome is presented. In particular the hyperkeratosis palmo-plantar hyperkeratosis and warty hyperkeratosis on the hand and feet are prominent clinical features in this patient. The literatures describing hyperkeratosis in the Rothmund-Thomson's syndrome are reviewed and the clinical feature as well as diagnostic value of the hyperkeratosis is discussed.     

Epidermolytic hyperkeratosis and congenital platelike osteoma cutis in a child

Epidermolytic hyperkeratosis is a rare congenital ichthyosis. Platelike osteoma cutis also is a rare diagnosis and is associated with abnormal ossification of cutaneous or subcutaneous tissue. A 17-month-old Hispanic girl presented with a plate of subcutaneous bone since birth as well as considerable scaling and hyperkeratosis centered around the joints. Histologic examination confirmed the diagnosis of both epidermolytic hyperkeratosis and osteoma cutis. Although there have been some cases of epidermolytic hyperkeratosis with other dermatologic conditions, we report a rare case of epidermolytic hyperkeratosis and platelike osteoma cutis.     

Fokale akrale Hyperkeratose

Focal acral hyperkeratosis is a disorder characterized by hyperkeratotic papules along the border of the hands and feet. Focal acral hyperkeratosis and several marginal punctate keratodermas closely resemble acrokeratoelastoidosis of Costa. The question if there is a difference between acrokeratoelastoidosis of Costa and focal acral hyperkeratosis or if they are variants of the same entity are discussed. We report a case showing focal acral hyperkeratosis, review the clinical and histological features of related conditions and present a modified concept of marginal papular acrokeratodermas.     

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.     

Epidermolytic hyperkeratosis: generalized form in children from parents with systematized linear form

Two unrelated families are presented in both of which a child with generalized epidermolytic hyperkeratosis (congenital bullous ichthyosiform erythroderma) had a parent with linear epidermolytic hyperkeratosis (epidermolytic epidermal naevus). Light and electron microscopy of skin biopsies of lesions from the children and parents showed typical epidermolytic hyperkeratosis. Gonadal mosaicism in patients with linear epidermolytic hyperkeratosis may be responsible for transmission of the abnormality to the offspring.     

大疱性鱼鳞病及维A酸相关作用研究进展

大疱性鱼鳞病是一种少见的常染色体显性遗传性皮肤病,临床以皮肤过度角化为主要表现,并有3种临床亚型。其发病主要由K1、K10和K2e角蛋白基因突变引起,为常染色体显性遗传。临床试验证实,多数患者在局部或系统使用维A酸后,皮肤状态明显改善。就大疱性鱼鳞病的病因、发病机制和维A酸相关作用机制进行综述。     

Nevoid follicular epidermolytic hyperkeratosis.

Comedo-like follicular papules of hair-follicles, confined to the left side of the upper part of the body, were found in a 22-year-old woman. Histological features were of epidermolytic hyperkeratosis with involvement of the follicular epithelium and the sebaceous duct with compact hyperkeratosis, but almost no interfollicular epidermal alterations were found. Because of the nevoid distribution, the prominent follicular plugging, and epidermolytic hyperkeratosis, we describe this condition as nevoid follicular epidermolytic hyperkeratosis.     

Scleredema adultorum associated with hyperkeratosis

Scleredema adultorum is a rare skin disorder reported to occur usually following streptococcal infections. It has characteristic clinical and histopathologic findings; however, associated hyperkeratosis is not known. We report a 6-year-old girl with scleredema adultorum and hyperkeratosis. The patient's disease had a benign course. To our knowledge, this patient is the first reported with scleredema adultorum associated with hyperkeratosis.     

I型先天性厚甲症一例

患儿,女,11岁。厚甲、掌跖角化11年,其父亲有类似病史。皮肤科检查：指（趾）甲甲板增厚,口角结黄痂,口唇线状白斑,舌苔厚白,躯干及四肢皮肤多处角化过度。皮肤组织病理示：表皮高度角化过度、角化不全、棘层增厚,真皮乳头血管扩张、充血,周围少许组织细胞浸润。诊断：I型先天性厚甲症。     

Nevoid hyperkeratosis of the areola misinterpreted as mycosis fungoides

Nevoid hyperkeratosis of the nipple and areola is a benign condition with fewer than 70 cases reported in the literature. We report a case of unilateral nevoid hyperkeratosis of the areola with intraepidermal lymphocytes that resembled Pautrier's microabscesses on histological examination. This is the third report of mycosis fungoides-like changes in nevoid hyperkeratosis of the nipple and areola. In addition, this is the first case to present immunohistochemical and T-cell gene rearrangement studies of the intraepidermal lymphocytes. This case highlights a potential histopathological pitfall in the diagnosis of nevoid hyperkeratosis of the nipple and areola.     

Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma).

Aggregation of tonofilaments within epidermal keratinocytes is a characteristic histologic feature of epidermolytic hyperkeratosis including the generalized form known as bullous congenital ichthyosiform erythroderma. The histologic distribution and the keratin composition of the altered tonofilaments were investigated to determine whether the aggregation was specific to any particular keratin(s). Skin samples from seven patients and one mid-trimester fetus with generalized epidermolytic hyperkeratosis, and from one patient with a localized or "nevoid" form of epidermolytic hyperkeratosis, were analyzed by using various microscopical and immunocytochemical methods. A conjunctival sample and cultured epidermal keratinocytes from one patient with generalized epidermolytic hyperkeratosis were also examined by electron microscopy and immunocytochemistry. Ultrastructurally, tonofilament aggregates were distributed within the suprabasal stratified epithelial cell layers of the epidermis, of the infundibular part of outer root sheaths, and of the sebaceous ducts and sweat ducts, selectively following the known distribution pattern of keratins K1 and K10. The abnormal tonofilaments were not found in any other cutaneous epithelia, in conjunctival epithelium, or in cultured keratinocytes, where K1 and K10 are absent or only minimally expressed. Immunoelectron microscopy showed that among the keratins detected in suprabasal epidermolytic hyperkeratosis epidermis (K1/K5/K10/K14/K16), the aggregated tonofilaments predominantly expressed K1 and K10 rather than other keratins. These results suggest that the keratin filament abnormality in epidermolytic hyperkeratosis principally involves K1 and K10 and raise the question whether epidermolytic hyperkeratosis might be primarily a disorder of one or both of these keratins.     

Disseminated Epidermolytic Acanthoma

A 65-year-old Japanese male suffered from numerous brownish papules on his back for 6 months. Clinical appearance resembled seborrheic keratosis, but light microscopic examination revealed epidermolytic hyperkeratosis. Electron findings were the same as those of epidermolytic hyperkeratosis and systemic nevus verrucosus. It may be concluded that this type of skin disease is an acquired epidermolytic hyperkeratosis.     

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.     

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。     

双侧巨大型乳头乳晕角化过度症

报告1例双侧巨大型乳头乳晕角化过度症。患者女，24岁。乳晕褐色斑10年，加重半年。患者自幼左侧乳头看不见。体格检查：双侧乳晕粗糙、增厚，呈乳头瘤样增生，右侧尤为明显。组织病理检查示表皮乳头瘤样增生，皮突延长并融合。诊断：乳头乳晕角化过度症。     

Localized hyperkeratosis lenticularis perstans (Flegel's disease)

A case of hyperkeratosis lenticularis perstans involving only the back of a thirty-nine-year-old woman is reported. Histologic examination showed foci of compact and eosinophilic hyperkeratosis overlying a thinned stratum malpighii. In the underlying papillary dermis there was no evidence of inflammatory infiltrate. This case demonstrates that hyperkeratosis lenticularis perstans may appear as a localized disorder, and that the inflammation is not an essential pathogenic process in this disorder.     

Hyperkeratosis of the nipple and areola

Hyperkeratosis of the nipple and areola is a rare condition. We report two cases of hyperkeratosis of the nipple and areola occurring in men with no underlying endocrinopathy or synthetic estrogenic drug therapy. Both patients demonstrated prompt resolution of the hyperkeratosis of the nipples with a keratolytic gel. Because our cases were not associated with ichthyosis or epidermal nevus, they best fit into the category of nevoid hyperkeratosis of the nipples.     

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.     

Focal acral hyperkeratosis

We report fifteen cases showing focal acral hyperkeratosis. They were clinically identical to acrokeratoelastoidosis (AKE) but lacked the elastorrhexis which is a feature of AKE. The name focal acral hyperkeratosis is proposed for this condition which differs histologically from AKE.     

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.