Epidermolytic hyperkeratosis

A 2-year-old boy reported with complaints of spontaneous, recurrent, excessive blisters, accompanied by redness and scaling, since birth. The blisters ruptured after a couple of hours, leaving behind raw, exuding, denuded areas, which healed by hyperpigmentation. No scarring was observed. Such episodes were quite regular in infancy. Subsequently, there was a perceptible decline in these episodes with the growth of the child. In addition, the child had multiple, warty scales located in the groin, axillae, and neck. Examination of the skin surface revealed ruptured bullae of varying size. On removal of the roof of a bulla, raw, exuding, erythematous, eroded areas were exposed ( Fig. 1 ). Hyperpigmentation at the healing site was prominent. The lesions were located over the extremities and trunk. In addition, hyperkeratotic warty eruptions confined to the neck, axillae, and groin were also identified ( Figs 2 and 3 ). Palmoplantar keratosis and a single palmar crease on both hands were other interesting associations. ^{1 , 2} Hematoxylin and eosin stained sections of the skin showed marked hyperkeratosis, hypergranulosis, and vacuolar degeneration of the stratum spinosum. In the dermis, there was a lymphohistiocytic infiltrate ( Fig. 4 ). ³ Karyotype analysis was normal. The blisters were snipped and the erosions were treated with local application of liquor aluminum acetate 1%. Amoxycillin and clavulanic acid suspension (Augmentin) was administered at a dosage of 125 mg twice daily until the lesions healed.

Figure 1 Open in figure viewer PowerPoint Raw, exuding erythematous areas     

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.     

Epidermolytic hyperkeratosis treated with etretinate

Epidermolytic hyperkeratosis is an unusual type of ichthyosis that may be characterized in extreme cases by massive cutaneous involvement resembling a porcupine. We present such a patient who had a remarkable response to treatment with oral etretinate.     

表皮松解性角化过度鱼鳞病

患者男,17岁。 主诉：全身皮肤红斑、水疱17年,褶皱部皮肤增厚、脱屑5年。 现病史：患者自出生时全身皮肤即有大片红斑,数日后在红斑基础上出现粗糙鳞屑,随后鳞屑脱落,露出湿润的基底面。在湿润的皮肤表面出现水疱,如玉米粒至核桃大,壁薄、易破,常感染,用消炎药（药名不详）后好转。随后在好转的皮肤表面又出现脱屑、水疱,病情反复发作。患者10岁以后,躯干部皮损减轻,仅肘部、腋窝、腹股沟、膝关节伸侧等部位皮肤粗糙、增厚,表面有灰黑色较厚的鳞屑,部分呈疣状增生,同时伴有掌跖角化。曾在当地多家医院诊治无效,遂来我院就诊。     

Epidermolytic hyperkeratosis associated with a dilated pore

A case of a dilated pore containing a histologic focus of epidermolytic hyperkeratosis was reported. Our case widened the spectrum to include the association of epidermolytic hyperkeratosis with acquired solitary skin lesions.     

Epidermolytic hyperkeratosis with a rare digital contracture

A sixteen year-old male patient with no history of consanguinity in the family, reported with patchy, thickened lichenified plaques over the whole body. Some areas had normal skin while some were Blaschkoid lesions. The child had delayed milestones along with hypogonadism. Digital contracture with palmoplantar keratoderma was present. Histopathology showed characteristic vacuolar degeneration of the upper epidermis and suprabasilar keratinocytes with hyperkeratosis.     

Epidermolytic hyperkeratosis within infundibular cysts

Epidermolytic hyperkeratosis (EH) is a well-described histopathologic pattern characteristic of bullous congenital ichthyosiform erythroderma, an autosomal dominant genodermatosis. It is also noted in cutaneous disorders where mosaicism leads to containment of the clinical and histopathologic changes. EH has been observed as an incidental finding in tissue adjacent to and within lesions such as nevi, scars, malignant melanoma, squamous cell carcinoma, basal cell carcinoma, and seborrheic keratoses. We present two cases of EH within infundibular type follicular cysts, a rare finding only once otherwise reported in 1978.     

Epidermolytic hyperkeratosis in inflammatory linear verrucous epidermal nevus

Epidermolytic hyperkeratosis presents with perinuclear vacuolization of the keratinocytes in spinous and granular layers, keratinocytes with ill-defined limits, which leads to a reticulate appearance of the epidermis, an increased number of variously shaped and sized basophilic keratohyalin granules and the same sized eosinophilic trichohyalin granules, at any level of epidermis, mainly in the stratum granulosum, and compact hyperkeratosis. This minor reactive pathologic reaction pattern of skin is found in large variety of diseases. This paper is the first case report of such pattern in inflammatory linear verrucous epidermal nevus. Our case is of a 23-year-old man with pruritic verrucous lesions of trunk and extremities initiated since 13 years ago. Physical examination revealed white linear hyperkeratotic lesions, some of them on erythematous background and also classic epidermal nevus. No skeletal, ophthalmic, and nervous system involvement was detected. Microscopic study of pruritic verrucous lesions showed psoriasiform acanthosis, mild papillomatous, hyperkeratosis, and epidermolytic hyperkeratotic changes in hair follicles and acrosyrinx accompanied with moderate perivascular inflammation.     

Epidermolytic hyperkeratosis type NPS-3: a case report

Epidermolytic hyperkeratosis (EHK) or bullous congenital ichthyosiform erythroderma is a rare autosomal dominant disorder characterized by an early onset, with erythroderma and bullous lesions, leading to severe generalized hyperkeratosis in adulthood. Mutations have been found in keratin 1 and keratin 10 genes. The clinical manifestations of EHK present striking heterogeneity and at least six clinical phenotypes have been identified. We report on a case of EHK in a 12-year-old girl with erythroderma, erosions and blisters on the entire body surface at birth and generalized hyperkeratosis but without severe palm and sole involvement in the later stage. On the basis of clinical and histopathologic findings, the diagnosis of EHK type NPS-3 was made.     

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.     

表皮松解性角化过度鱼鳞病伴侏儒1例

报告1例表皮松解性角化过度鱼鳞病患者伴侏儒和骨骼畸形。患者女,15岁。全身皮肤红斑、表面覆灰棕色痂皮15年,伴体形矮小、四肢畸形12年。皮肤组织病理检查显示表皮角化过度伴角化不全,棘层肥厚,表皮颗粒层下见明显裂隙,裂隙内有较多角化不良细胞,表皮和真皮内有大量中性粒细胞浸润。     

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.     

Epidermolytic hyperkeratosis associated with melanocytic nevi: a report of 53 cases.

Epidermolytic hyperkeratosis (EH) is a unique histopathologic alteration of the skin characterized by hyperkeratosis with perinuclear vacuolization of keratinocytes primarily in the stratum granulosum and the stratum malpighii. It is seen as an incidental finding in a variety of conditions, benign and malignant, as well as sporadic and familial. Recently, it has been reported that EH may be associated with dysplastic nevi (nevus with architectural disorder [NAD]). Cases of melanocytic nevi with epidermolytic hyperkeratosis were retrieved from the files of a referral dermatopathology laboratory over a 6-year period. We present a series of 53 cases of EH in both ordinary nevi and NAD. Epidermolytic hyperkeratosis identified in association with NAD accounted for 46 cases or 86.8% of the total lesions while ordinary nevi represented 7 or 13.2% of total cases. Our study confirms that the incidence of EH is higher in association with dysplastic nevi than in ordinary melanocytic nevi and may serve as a marker for NAD, but with lower sensitivity and only moderate specificity.     

Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event

Epidermolytic hyperkeratosis is an unusual type of ichthyosis. This inherited keratinization disorder is characterized clinically by erythema, blistering, and peeling shortly after birth. It may resolve and be replaced with thick scaling. It can lead to life-threatening complications, such as sepsis. Histologically, there is a hyperkeratosis and vacuolar degeneration. Genetically, this is an autosomal dominant disease with complete penetrance; however, 50% are spontaneous mutations. The clinical phenotype is a result of alterations in the gene(s) for keratin 1 and/or 10. We review this disorder and its therapy, which is mainly symptomatic with emollients and retinoids.