Inflammatory Linear Verrucous Epidermal Naevus Research Articles

O07 CHILD syndrome and ILVEN: disorders on the same spectrum?

Abstract Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (CHILD syndrome) is a rare X-linked dominant disorder caused by hemizygous variants in the NSDHL gene. Typically, affected girls are born with unilateral skin lesions in a Blaschkoid distribution due to random X-inactivation, and ipsilateral limb reductions. We report a genetically confirmed case without significant limb reductions and consider the relationship of CHILD syndrome to inflammatory linear verrucous epidermal naevus (ILVEN) also sometimes caused by mosaic variants in NSDHL. A 9-month-old girl presented with extensive congenital red, scaly lesions in a Blaschkoid distribution confined to the right side of her body. Examination was otherwise normal apart from sensorineural deafness in the right ear and overlapping right 4th and 5th toes. Histology showed the characteristic foamy histiocytes of CHILD syndrome and genetic testing revealed a heterozygous pathogenic variant of NSDHL, c.262C>T p.(Arg88*) previously reported in CHILD syndrome. Patients clinically diagnosed with ILVEN but with NSDHL mutations have sometimes been reclassified as CHILD syndrome (König A et al. ILVEN encompasses a spectrum of inflammatory mosaic disorders. Am. J.Med.Genet. 2000;90:339-46). The histology of ILVEN is less specific than CHILD syndrome, without the characteristic foamy histiocytes. Nonetheless these conditions could be on a spectrum, with limb defects arising if mutant skin cells overlie the primitive limb bud (Moss C, Burn J. Hypothesis: CHILD+ILVEN=PEN or PENCIL J.Med.Genet. 1990;27:390-391). NSDHL controls cholesterol synthesis and the topical treatment with statins plus cholesterol effective in CHILD syndrome could be considered in some cases of ILVEN.

262 The Role of Cholesterol in Rare Inflammatory Skin Disease

Inflammatory linear verrucous epidermal naevus (ILVEN) is a rare congenital disease characterised by Blaschko-linear erythematous scaly skin. It is highly pruritic, disfiguring, and notoriously treatment-resistant. The genetic basis is heterogeneous: causes so far established are a single case of GJA1- and two of CARD14- mosaicism. However, clinical overlap with the skin lesions of CHILD syndrome led us to hypothesise that there may be a common biological pathway abnormality in ILVEN skin centred on cholesterol metabolic pathways.

Molecular Genetic Dissection of Inflammatory Linear Verrucous Epidermal Naevus Leads to Successful Targeted Therapy

Molecular Genetic Dissection of Inflammatory Linear Verrucous Epidermal Naevus Leads to Successful Targeted Therapy

314 Molecular genetic dissection of ILVEN leads to successful targeted therapy

Inflammatory linear verrucous epidermal naevus (ILVEN) is a childhood disease characterised by Blaschko-linear erythematous scaly skin. It is highly pruritic, causes distressing disfigurement, and is so notoriously treatment-resistant that it forms part of the diagnostic criteria. The cause is unknown. Using deep next generation whole exome sequencing of affected skin and blood we discover here mosaic mutations in gene CARD14 as the cause of ILVEN in two patients with treatment-resistant disease. Dramatic clinical improvement was seen with IL12/IL23-inhibitor Ustekinumab, chosen as a direct result of the genetic finding, underlining the power of molecular characterisation alongside clinical diagnosis.

HISTOPATHOLOGICAL SPECTRUM OF PSORIASIFORM SKIN LESIONS- A CENTRE BASED STUDY.

Objective: To study frequencies, morphological patterns, and the spectrum of psoriasiform lesions and to assess diagnostic accuracy of histopathology.Study design: Cross-sectional.Place and Duration of Study: This study was conducted from January 2007 to December 2011 at the Department of Histopathology, Basic Medical Science Institute, Jinnah Postgraduate Medical Centre, Karachi.Materials and Methods: All the biopsies of psoriasiform dermatitis were selected for detailed study. The clinicalhistory and relevant data was recorded from the surgical pathology record registers. Haematoxylin and eosinstained slides were retrieved and special stains were performed where required.Results: Out of total of 113 cases of psoriasiform dermatitis, 42 were reviewed as psoriasis and the rest of 71lesions were an array of lesions diagnosed as chronic dermatitis, nodular prurigo, pityriasis rubra pilaris, seborrheic dermatitis, allergic contact dermatitis, atopic dermatitis, lichen simplex chronicus, Mycosis Fungoides, Inflammatory linear verrucous epidermal naevus (ILVEN), leucoclastic vasculitis, post inflammatory hyperpigmentation, PLEVA, and psoriasiform drug reaction.Conclusion: In a developing country like Pakistan where the tertiary care hospitals do not provide ancillary diagnostic facilities like immunohistochemistry and immunoflourescence, a good and careful viewing of morphologicalfeatures in collaboration with the dermatology department , makes it possible to reach an authentic diagnosiswhich in turn proves helpful to the dermatologist in prescribing the correct medications and treatment.

Vulval and perianal inflammatory linear verrucous epidermal naevus

Inflammatory linear verrucous epidermal naevus (ILVEN) is a rare form of epidermal naevus. It occurs as a linear dermatitic or psoriasiform plaque, with onset usually in the first 5 years of life. Lesions are characteristically intensely itchy. We present a case of ILVEN occurring on the vulva and perianal region of a 6-year-old girl. The lesion was initially thought to be an area of lichenified dermatitis; however, treatment with even super-potent topical corticosteroids did not significantly improve the inflammation. A biopsy was performed and histopathological examination showed characteristic features. ILVEN is frequently refractory to topical treatment and surgical excision of lesions may be an option for relief of symptoms. ILVEN occasionally presents in the inguinogenital region and in this area may, like many vulval naevi, be misdiagnosed as vulvitis, psoriasis, genital warts or sexual abuse.

Familial inflammatory linear verrucous epidermal naevus in a father and daughter

Conflict of interest: none declared. Inflammatory linear verrucous epidermal naevus (ILVEN) is a rare skin disorder characterized by hyperkeratotic, erythematous and verrucous lesions that follow Blaschko’s lines. Inflammatory episodes often occur. Histologically, epidermal acanthosis is seen. A characteristic pattern of orthokeratosis with broadened granular layer alternating with parakeratosis overlying hypogranulosis may be observed. ILVEN occurs sporadically, familial forms being rarely reported in the literature.1–6 We report here a new family with ILVEN. A 3‐year‐old‐girl presented with linear, erythematous, pruritic, verrucous and keratotic lesions following Blaschko’s lines, which had been present since birth. She was the first child born to nonconsanguineous parents. There was no family history of psoriasis or eczema. The lesions were localized at the right side of the lower lip and on the right axilla (Fig. 1a). Her 27‐year‐old father had a similar lesion on the right side of the scrotum that had been present since childhood (Fig. 1b). The child’s younger brother and mother were both unaffected. Inflammatory episodes were reported for both the father and daughter.

Epidermal Naevus with Eccrine Duct Changes: an Orthokeratotic Variant of Eccrine Ostial and Dermal Duct Naevus?

Epidermal naevus is a congenital malformation of the epidermis, clinically manifested by verrucoid scaly pla-ques, often in a linear distribution following the Blaschko lines. It is considered a genetic cutaneous manifestation of mosaicism and may show different histological featu-res. Hyperkeratosis, papillomatosis and acanthosis with elongation of rete ridges is the most common pattern in epidermal naevus. However, other different histopatho-logical patterns, such as acrokeratosis verruciformis-like, epidermolytic hyperkeratosis, seborrhoeic keratosis-like, psoriasiform and acantholytic dyskeratosis have been reported occasionally (1).In addition, some authors also include a few peculiar entities showing distinctive clinical and histological fea-tures, such as inflammatory linear verrucous epidermal naevus (ILVEN), porokeratosis-like epidermal naevus, and naevus comedonicus in the spectrum of epidermal naevus (1, 2). We report here a congenital, solitary linear verrucous lesion, histologically showing epidermal hyperplasia and dilated acrosyringea filled with orthokeratotic plugs. This peculiar “epidermal naevus associated with acrosyringeal changes” seems to represent an additional histopathological variant that has received little atten-tion in the literature. CASE REPORTA 21-day-old girl was referred to our department for the evaluation of a solitary linear plaque on the right wrist that was present at birth. She was the full-term daughter of a healthy 38-year-old woman. The pregnancy had been complicated by diabetes during the last 3 months and had been treated with insulin. A caesarean section was performed because the labour was not progressing. No history of previous local trauma was recorded. There was no family history of similar dermatosis or other hereditary conditions.Physical examination disclosed a brownish, flesh-coloured, slightly verrucoid, well-demarcated plaque, 20×10 mm in diameter, on the outer aspect of the right wrist (Fig. 1). No similar lesions were noted elsewhere. The rest of the physical examination was unremarkable. Two different 4-mm punch biopsies were carried out. Histopathological examination disclosed a diffuse epi-dermal hyperplasia with basket-weave hyperkeratosis and discrete hypergranulosis. Several epidermal invagi-nations corresponding to dilated deep acrosyringea with prominent hyperkeratosis and acanthosis were noted. Orthokeratotic keratin plugs extended from hyperplasic acrosyringea to the underlying dermal eccrine ducts (Fig. 2A). Dilated eccrine ducts in the dermis under-neath epidermal invaginations were also observed (Fig. 2B). Neither loss of granular cell layer at the base of epidermal invagination or cornoid lamellae formation were observed. After multiple sections in both biopsy specimens, no evidence of parakeratotic columns within the epidermal invaginations could be demonstrated. Im-munohistochemical staining for CEA, AE1-AE3, and αEβ7 antibodies confirmed that the epidermal invagi-nations corresponded to dilated acrosyringea connected with the underlying glandular sweat ducts (Fig. 2C). DISCUSSIONWe report here an unusual solitary linear congenital hamartomatous verrucous lesion, clinically identical to an epidermal naevus, characterized histologically by an epidermal hyperplasia, dilated acrosyringea fil-led with orthokeratotic plugs without cornoid lamella formation.After reviewing the literature, we have found only one previous report showing a similar clinicopathological picture. In 1983, Imai & Nitto (3) reported a 22-year-old woman with several acquired papular lesions on the extensor aspect of her left leg under the term “eccrine nevus with epidermal changes”. Histopathological examination disclosed acanthosis, hyperkeratosis, a serrate configuration and elongation of the rete ridges. A malformed eccrine sweat structure with ductal hy-perplasia was noted.

Acitretin Treatment of a Systematized Inflammatory Linear Verrucous Epidermal Naevus

Sir, Inflammatory linear verrucous epidermal naevus (ILVEN) is a rare, yet clinically characteristic disease. ILVEN was characterized as a type of epidermal naevus by Altman & Mehregan (1) in 1971. From a clinical and histological point of view, ILVEN and psoriasis are similar. Sometimes only the clinical course of the disease, the persistent resistance to local therapy and the strong itching may suggest the diagnosis. About 5% of epidermal naevi are ILVEN; most are solitary lesions. In contrast, systematized ILVEN involving wide areas of the integument has only rarely been reported (2, 3). Local treatment of systematized ILVEN with potent corticosteroids or tretinoin 0.1% and good clinical response to oral retinoids in systematized verrucous epidermal naevus (4) have been described. Alternatively,

NEVIL del adulto con hiperplasia papilomatosa multifocal

Verrucous epidermal naevi are hamartomatous lesions with differentiation toward epidermal keratinocytes. Certain clinical and histological characteristics have justified the individualization of the so-called inflammatory linear verrucous epidermal naevus (ILVEN).A 42 year-old male presented with an erythematous and keratotic dermatosis that extended longitudinally along the right lower limb following the lines of Blaschko. Inside the previous dermatosis he developed, in the last years, several tumoral exophytic lesions whose histological study revealed only an intense papillomatosis of benign nature.We describe an example of inflammatory linear verrucous epidermal naevus which, in an adult age, developed multiple exophytic tumours of purely hyperplastic characteristics.

Linear atrophoderma of Moulin: a disease which follows Blaschko's lines

Linear atrophoderma of Moulin is a distinctive disease pattern characterized by hyperpigmented atrophoderma and described originally in 1992. It follows the lines of Blaschko, and occurs without preceding inflammation, subsequent induration or scleroderma. The lesions usually develop during childhood or adolescence, and the prognosis is good. The differential diagnoses include linear dermatoses, e.g. linear scleroderma, epidermal naevi, inflammatory linear verrucous epidermal naevus, lichen striatus, Blaschkitis acuta, reticulate hyperpigmentation of Iijima and linear lupus erythematosus. Diagnosis is made clinically and histologically. We report a 22-year-old woman with a 17 year history of linear atrophoderma which involved the right arm and trunk.

Possible indications for vitamin D3analogues in conditions other than psoriasis vulgaris

Vitamin D3 analogues interfere with various aspects of cutaneous inflammation, keratinization and epidermal proliferation, and are effective in chronic plaque psoriasis. Recently their clinical efficacy has been investigated in other skin disorders. So far, the vitamin D3 analogue calcipotriol has proved to be effective in pustular psoriasis, congenital ichthyosis, inflammatory linear verrucous epidermal naevus, Graver's disease and pityriasis rubra pilaris. Information on the effect of other vitamin D3 analogues in these conditions is limited.

Phalangeal osteomyelitis due to nail biting.

We report a patient with an inflammatory linear verrucous epidermal naevus (ILVEN) coexisting with an auto-immune lymphocytic thyroiditis. The occurrence of two epithelial inflammatory processes could be linked and raises the question of auto-immune involvement in the inflammatory part of ILVEN. Moreover, expression of a membrane antigen, OKM5, usually assigned to antigen-presenting cells, especially macrophages, has been demonstrated on keratinocytes in some dermatological diseases including ILVEN. These data suggest that keratinocytes in ILVEN could present some antigens and perhaps auto-antigens modified by the hamartomatous process, leading to an (auto-immune?) inflammatory reaction.

Inflammatory linear verrucous epidermal naevus with auto-immune thyroiditis: coexistence of two auto-immune epithelial inflammations?

The copper vapour laser has in theory qualities which make it interesting in the treatment of cutaneous vascular malformations. In order to study the clinical effect of the copper vapour laser and to compare its effect with the effect of the argon laser, we treated 38 patients with port-wine stain or facial telangiectasia with the copper vapour laser. Thirty-one patients were evaluated and of these 24 were improved or much improved. Nineteen patients had previously been treated with the argon laser, and in this group the copper vapour laser had better effect than the argon laser in 8 patients and equal effect in 9 patients. In 7 patients side-effects like scarring or hyperpigmentation were noted after treatment with copper vapour laser.

Clinico-histopathological study of epidermal naevi.

SummaryThe clinical and histopathological features of epidermal naevi from 75 patients were reviewed. In approximately two‐thirds of the patients, these lesions were not present at birth. Five classical clinical varieties and ten histopathological patterns were observed. It was only possible to determine the types of histopathological patterns by the examination of the clinical features alone in the cases of linear porokeratosis and linear naevus comedonicus. A further clinical type of inflammatory linear verrucous epidermal naevus was revealed in this study. This consisted of asymptomatic short linear brownish plaques in which the lesions did not resemble the classical itching linear erythematous plaques.

Inflammatory Linear Verrucous Epidermal Naevus

A case of inflammatory linear verrucous epidermal naevus is described. Unusual features were the widespread and bilateral distribution, nail involvement, and the abundance of capillaries in the dermis.