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.     

Epidermal nevus

A healthy 25-year-old man presented with a widespread, non-organoid, non-epidermolytic epidermal nevus. In addition to extensive hyperpigented patches and thin plaques following Blaschko lines, there were superimposed psoriasiform plaques on the elbows and warty plaques on the upper trunk. Striate palmar keraoderma also was evident. We review the clinical morphologies, sites of involvement, histopathologic findings (presence or absence of epidermolytic hyperkeratosis), and syndromal associations of non-organoid EN with underlying mutations in different genes.     

Acne arising in an epidermal nevus

Abstract:  Epidermal nevi are benign congenital lesions that follow Blaschko lines. Epidermal nevi can demonstrate a variety of histologic patterns and contain hamartomatous hyperplasia of any epidermal or adnexal structure. We present the first reported instance of acne arising strictly within a preexisting keratinocytic epidermal nevus during puberty, which is a demonstration of genetic mosaicism in pilosebaceous units.     

Pigmentary nevi on face have unique patterns and implications: The concept of Blaschko's lines for pigmentary nevi

Background:

Nevi are proposed to reflect the mosaicism and thus generally follow the different archetypal patterns of mosaicism. Blaschko''s lines are the most common pattern of mosaicism. There have been many attempts to elucidate the Blaschko''s lines on face from the distributional patterns of different nevi, but studies that evaluated exclusively pigmentary nevi are sparse. Aims: This study attempted to evaluate the patterns followed by different pigmentary nevi on face and utilized this to elucidate the pattern of embryological pigmentation on face.

Materials and Methods:

Spatial parameters like shape, orientation, and distribution patterns of different flat pigmentary nevi on face were analyzed and graphically drawn on human facial diagram. This was compared with existing facial Blaschko''s lines. All cases of palpable pigmented nevi like congenital and giant melanocytic nevi and nevus spilus were excluded.

Results:

A total of 68 cases of pigmentary nevi on face (male-39, female-29) were examined. The shape and distribution lines were found to have a close similarity with Blaschko''s lines on face with distinct differences.

Conclusions:

The concept of facial embryonic pigmentary ‘segment’, ‘unit’ and existence of separate Blaschko''s lines for facial pigmentary nevi is conceived. Some insight into the pathogenesis of Blaschko''s lines is also proposed in this study.     

Systematized Epidermal Nevus with Epidermolytic Hyperkeratosis Improving with Topical Calcipotriol/Betametasone Dipropionate Combination Ointment

Abstract: We present the case of a 5‐year‐old boy who presented with systematized epidermal nevus with evidence of epidermolytic hyperkeratosis on skin biopsy. He was otherwise well, with normal growth and development and no evidence of other organ system involvement. He had experienced only mild improvement with potent topical corticosteroids. He reported more‐marked improvement after 2 months of topical calcipotriol/betamethasone dipropionate combination ointment once a day to the lesions. Extensive epidermal nevi can lead to severe cosmetic disfigurement. We recommend a trial of topical calcipotriol/betamethasone dipropionate ointment for patients with extensive epidermal nevus not amenable to surgical treatment.     

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.     

Genital/Perigenital Inflammatory Linear Verrucous Epidermal Nevus: A Case Series

Background:

Inflammatory linear verrucous epidermal nevus (ILVEN) is a distinct variety of keratinocytic epidermal naevus. In contrast to non-inflammatory epidermal naevi, ILVEN are far less common, usually erythematous and intractably pruritic. ILVEN usually appears at birth or early childhood and has a linear distribution following the Blaschko lines. Genital/perigenital involvement is relatively rare.

Objectives:

To describe the clinical features of 9 children with ILVEN localized to the genital and perigenital areas.

Method:

A retrospective study of 9 children with ILVEN presenting to a tertiary care Dermatology Clinic between 2007 and 2014 was undertaken. The clinical and histopathological features were reviewed.

Results:

Nine children (6 females, 3 males) were included in the study based on their characteristic clinicopathological features. The lesions were associated with severe itching in all cases. The mean age at presentation was 4 years (range 1-11 years). Onset of lesions was before 6 months of age in 8 patients. Left sided involvement was twice as common as the right sided one. Male patients had penoscrotal and groin involvement while all the female children had vulvar lesions. None of the children had any extracutaneous abnormalities. The children were treated with topical agents with variable relief or symptoms.

Conclusions:

The possibility of ILVEN should be considered in every linear genital lesion in children. We have presented the largest series of perigenital ILVEN reported in English literature.     

Development of squamous cell carcinoma on an inflammatory linear verrucous epidermal nevus in the genital area

Inflammatory linear verrucous epidermal nevus is a rare cutaneous disorder characterized by pruritic, erythematous, and verrucous papules and plaques along the lines of Blaschko. Histopathologically, there is a benign verrucous proliferation of keratinocytes together with alternating parakeratosis and orthokeratosis as well as inflammatory changes. We report a patient who developed squamous cell carcinoma (SCC) on an inflammatory linear verrucous epidermal nevus and we discuss the importance of regular follow-up of patients with epidermal nevi.     

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.     

疣状表皮痣62例临床与病理分析

目的探讨疣状表皮痣(verrucous epidermal nevi,VEN)的临床病理特点,提高对本病的认识。方法回顾性分析62例VEN患者的临床和组织病理资料。结果患者发病年龄从出生至29岁,62例患者中局限型29例(46.77%),系统型19例(30.65%),炎症性线状型(ILVEN)14例(22.58%)。局限型和系统型皮损表现为疣状丘疹或斑块,炎症性线状型表现为线状红色瘙痒性斑块。皮损组织病理主要表现为:角化过度、棘层肥厚、乳头瘤样增生和皮突延长,多数病例伴颗粒层增厚,有的病例伴角化不全、表皮松解性角化过度、基底层色素增加以及真皮浅层血管周围淋巴细胞和组织细胞轻度至中度浸润。结论 VEN多发生于出生时和婴儿期,但婴儿期后发病并不少见,且以局限型最为多见。本病皮损具有特征性,组织病理有助于鉴别诊断。     

Acrosyringial epidermolytic papulosis neviformis

A 42-year-old woman showed multiple verrucous papules on her right ring finger. Histology revealed a hyperkeratotic plug and epidermal foci of epidermolytic hyperkeratosis exclusively involving the intraepidermal sweat duct units. We propose the term acrosyringial epidermolytic papulosis neviformis or epidermolytic sweat duct nevus to define this unique entity.     

The Relationship of Psoriasis and Melanocytic Nevi

Background:There is limited data about the relationship between psoriasis and melanocytic lesions and melanoma. Immunologic pathways which were implicated in psoriasis induce a reduction in the number of melanocytic nevi.Methods:We performed a prospective study in 100 psoriatic patients and 100 controls. Clinical data were recorded for all participants.Results:As compared with controls, patients had overall fewer nevi congenital nevi. Among psoriatic patients, biologic agents and disease severity did not correlate with the number of nevi.Conclusions:Psoriatic patients have fewer nevi than controls. Frequency of nevi in psoriatic patients is not related to treatment and disease severity.     

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.     

Multiple scrotal epidermolytic acanthomas; secondary to trauma?

Epidermolytic hyperkeratosis (EH) is an abnormality of epidermal maturation, most commonly due to mutations in keratins 1 and 10, which may be a congenital or an acquired defect. The term epidermolytic acanthoma was applied to a solitary discrete epidermal proliferation characterized by EH. Subsequently there have been several reports of disseminated epidermolytic acanthomas. We report a rare case of multiple epidermolytic acanthomas localized to the scrotum. With the aetiology of epidermolytic acanthoma unknown, trauma has been postulated as a possible cause. Our patient repetitively scratched his scrotum for 5 years and we believe that this action triggered his multiple scrotal epidermolytic acanthomas.     

Acquired,Idiopathic, Patterned Facial Pigmentation (AIPFP) Including Periorbital Pigmentation and Pigmentary Demarcation Lines on Face Follows the Lines of Blaschko on Face

Background:

Acquired, non-nevoid, apparently idiopathic facial pigmentation are distributed over some specific locations like periorbital area, zygomatic area, malar area, root of nose, perioral and mandibular area. Periorbital pigmentation is the most well known entity in this group. These are bilaterally distributed homogenously diffuse gray to dark gray or slate-gray colored patches showing progressive intensification of pigmentation. These are often considered as physiologic or constitutional pigmentation. Some portions of the margins of these patches were described previously as pigmentary demarcation line (PDL- F, G, H).

Aim:

To analyze the distributional patterns of acquired, apparently idiopathic facial pigmentations and to evaluate the etiologic aspects of these conditions.

Materials and Methods:

Spatial patterns, distribution, and orientation were analyzed among 187 individuals with idiopathic non-nevoid, facial pigmentation. Observed patterns were compared with various pigmentary nevi and Blaschko''s lines on face.

Results:

It was found that most of the idiopathic facial pigmentary alterations including periorbital pigmentation and PDL on face had specific patterned distribution that had high similarity to that of the pigmentary nevi and Blaschko''s lines on face.

Conclusion:

It is hypothesized here that phenotypic expression of acquired patterned pigmentation (AIFPFP) is due to genetically determined increased pigmentary functional activity to various known and unknown yet natural factors like UV rays and aging. Mosaicism was a definite possibility. We also consider that the patterns actually reflected the normal patterns of embryological human pigmentation on face.     

Unilateral segmental Darier disease following Blaschko lines: a case report and review of the literature

Darier disease (DD) is an autosomal-dominant skin disorder that is characterized by multiple keratotic papules, loss of epithelial adhesion, and abnormal keratinization. We describe an unusual case of late-onset unilateral segmental DD that follows the lines of Blaschko. Our patient did not exhibit other classic findings of DD. Our case and review of the literature suggest that lesions previously classified as acantholytic dyskeratotic epidermal nevi (ADEN) are actually unilateral segmental presentations of DD.     

An ultrastructural study of epidermolytic leukoplakia

A leukoplakic lesion of the lip showing the histologic features of epidermolytic hyperkeratosis above solar elastosis was investigated by electron microscopy. The ultrastructural alterations observed in the upper epidermal layers corresponded in the main with those of epidermolytic hyperkeratosis in other skin diseases. The keratinocytes showed irregularly formed tonofilaments, a marked intracellular edema, and premature cornification. In addition, there were discrete subcellular signs of premalignancy in the cells of the basal and suprabasal layers. These alterations suggest that the epidermolytic leukoplakia represents a rare histopathologic variant of actinic cheilitis.     

Congenital melanocytic nevi and nevus spilus have a tendency to follow the lines of Blaschko: an examination of 200 cases

There have been few reports about the characteristics of the pigmentary arrangement of congenital melanocytic nevi (CMN) and nevus spilus (NS). Though the lines of Blaschko, which don't correspond to other lines such as Langer's lines and skin dermatomes, are well known to be followed by some rare pigmentary disorders, the relationship between these two disorders and the lines of Blaschko has not been discussed. Therefore, through an examination of 200 cases, we investigated whether or not the arrangement of CMN and NS follow the lines of Blaschko. Thirty-nine out of 92 cases (42.4%) of CMN and 67 out of 108 cases (62.0%) of NS were considered to follow the lines of Blaschko. Today, the idea is widely accepted that two functionally different cells proliferate during early embryogenesis of the skin which is caused from mosaicism and, as a result, the lines of Blaschko appear visually. In our results, we found that there were some cases of CMN and NS which showed a relationship with the lines of Blaschko, which is meaningful considering that the lesions and the lines are both related to pigmentary gene anomalies. The result was compared with CMN and NS by the chi(2) test. NS showed a predominant tendency to follow the lines with a significant difference (P = 0.0055). This may indicate that the lines of Blaschko reflect more clearly the proliferation of the epidermal cells than other cells in growth of the skin of the embryo. Further studies are required to elucidate the reason why some cases follow these lines and others do not.     

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.     

Reactive Eccrine Syringofibroadenomatosis Presenting as Bilateral Plantar Hyperkeratosis

Eccrine syringofibroadenoma (ESFA) is a rare cutaneous tumor with eccrine differentiation with varied clinical manifestations. We report a case of reactive eccrine syringofibroadenomatosis associated with chronic bilateral plantar ulcers in a patient with diabetes mellitus presenting as plantar hyperkeratosis and verrucous growth at margins.