Nevo sebáceo de Jadassohn. Localización atípica y síndromes asociados / Nevus sebaceus of Jadassohn. Atypical location and associated syndromes

Hamartoma benigno que puede aparecer desde el nacimiento. Se localiza sobre todo en cuero cabelludo y cara; origina una placa alopécica, amarillenta, de superficie rugosa. Tiene tres etapas, una de hiperplasia epidérmica, luego una puberal con desarrollo de glándulas sebáceas y una tardía con desarrollo de tumores benignos o malignos, en especial siringocistadenoma papilífero y tricoblastomas. Puede presentarse asociado a síndromes genéticos. Su exéresis quirúrgica es objeto de controversia (AU)

Benign hamartoma that can appear from birth. It is located mainly on the scalp and face; It causes an alopecic, yellowish plaque with a rough surface. It has three stages, one of epidermal hyperplasia, then a pubertal stage with development of sebaceous glands, and a late stage with development of benign or malignant tumors, especially papillary syringocystadenoma and trichoblastoma. It can appear associated with genetic syndromes. Its surgical excision is controversial. (AU)

Verrucous epidermal nevus as a manifestation of a type 2 mosaic PTEN mutation in Cowden syndrome.

Linear Cowden nevus, also known as linear PTEN nevus, is a type of epidermal nevus, first described in 2007, which is seen in patients with PTEN hamartoma tumor syndrome. It is considered to be a type 2 form of segmental mosaicism, and we suggest that it has certain clinical features that distinguish it from epidermal nevi seen in similar conditions, such as Proteus syndrome. We present a case of linear Cowden nevus in a 4-year-old boy and review the literature.

Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders.

BACKGROUND: Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disease characterized by pruritic erythematous scaly plaques distributed along the lines of Blaschko. Two cases of ILVEN with CARD14 mutations and one case with a GJA1 mutation have been previously reported. OBJECTIVE: To elucidate the genetic cause of a cohort of patients diagnosed based on clinical and histopathological evaluation with ILVEN. METHODS: We recruited patients diagnosed with ILVEN based on clinical and histopathological criteria. Exome sequencing of affected skin with or without blood/saliva was performed and germline and somatic pathogenic variants were identified. RESULTS: Five patients were enrolled. All had skin lesions from birth or early childhood. Two patients developed psoriasis vulgaris after the diagnosis of ILVEN. The first had a germline heterozygous CARD14 mutation and a post-zygotic hotspot mutation in KRT10. The histopathologic evaluation did not show epidermolytic hyperkeratosis. The second had a post-zygotic hotspot mutation in HRAS. Her ILVEN became itchy once psoriasis developed. One patient was re-diagnosed with linear porokeratosis based on a germline mutation in PMVK and a post-zygotic second-hit mutation. Two patients were re-diagnosed with congenital hemidysplasia with ichthyosiform nevus and limb defect nevus based on germline NSDHL mutations. CONCLUSION: ILVEN is a clinical descriptor for a heterogenous group of mosaic inflammatory disorders. Genetic analysis has the potential to more precisely categorize ILVEN and permits pathogenesis-directed therapies in some cases.

An update on Becker's nevus: Pathogenesis and treatment.

Becker's nevus (BN) manifests as a hyperpigmented, sometimes hypertrichotic plaque/patch over the chest and shoulder, and it is in the category of benign cutaneous hamartomas. BN has elongation and fusion of the rete ridge, keratotic plugging, sebaceous hyperplasia, smooth muscle hyperplasia, and hyperpigmentation of the basal/suprabasal layer histologically. This article highlights all issues involved in pathogenesis and treatment options of BN. According to current research, postzygotic ACTB mutations induce BN and Becker's nevus syndrome (BNS). Although several therapy strategies were utilized to treat the pigmentary and hypertrichotic aspects of BN, no definitive standard treatment was identified to far, and further research is needed to better educate BN care.

Oral HRAS Mutation in Orofacial Nevus Sebaceous Syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome): A Case Report With a Literature Survey.

BACKGROUND/AIM: The aim of this study was to present the long-term course of a patient with nevus sebaceous syndrome (NSS). Recent genetic studies place the syndrome in the emerging group of so-called RASopathies. The focus of the report is on surgical treatment and morphological and genetic findings of the face and oral cavity. CASE REPORT: A female patient was treated for congenital alterations of facial skin and oral mucosa. The oral lesions were removed repeatedly. Eruption of teeth on the lesion sites was made easier by the measures taken. However, after repeated ablation of the affected gingiva, the periodontal papillomatous epithelium re-differentiated into the same reddish, conspicuous, hyperplastic epithelium. The teeth in the affected region showed noticeable changes in position, surface, and shape. A HRAS mutation was detected only in the regions of altered oral epithelia and not in adjacent soft tissues. CONCLUSION: Reports on NSS rarely address oral manifestations. The recorded alterations of oral soft and hard tissues in NSS indicate a topographical relationship between the development of oral mucosa and teeth as well as the long-lasting impact of a sporadic mutation on organ development at this site.

Nevo epidérmico verrucoso inflamatório linear e diagnóstico diferencial com a psoríase linear: a respeito de um caso / Inflammatory linear verrucous epidermal nevus and differential diagnosis with linear psoriasis: about a case

Nevo epidérmico verrucoso inflamatório linear e diagnóstico diferencial com a psoríase linear: a respeito de um caso RELATO DE CASOMaria Isabel Muniz Zemero1, Maria Amélia Lopes dos Santos1, Alena Margareth Darwich Mendes1, Carla Andrea Avelar Pires1,O nevo epidérmico verrucoso inflamatório linear (NEVIL) é uma variedade clínica rara de nevo epidérmico verrucoso, que se manifesta no início da infância, como lesões inflamatórias de superfície ceratósica, que coalescem e se distribuem em faixa, acompanhando as linhas de Blaschko. Faz diagnóstico diferencial com a psoríase linear, sendo difícil a diferenciação, dado os aspectos clínicos e histopatológicos comuns aos dois, enfantizando-se a necessidade de conhecer as características específicas de cada um. O objetivo deste relato é demonstrar uma afecção relativamente rara, descrita em uma menina de 5 anos, evoluindo desde os primeiros dias de vida com placas papuloceratósicas dispostas linearmente, acompanhadas de sinais inflamatórios e áreas erosadas ocupando grandes lábios, períneo e face interna e superior da coxa esquerda. Também pápulas e placas ceratósicas na região cervical posterior e borda lateral externa da planta do pé esquerdo, ascendendo ao longo da região posterior deste membro. Os critérios clínicos e histopatológicos corroboram o diagnóstico de NEVIL na diferenciação com a psoríase linear, ressaltando a importância do estabelecimento de critérios/ ferramentas que auxiliem na diferenciação destas duas dermatoses visando agilizar o diagnóstico, otimizar o tratamento e minimizar o desconforto para esses pacientes. O acompanhamento a longo prazo dos portadores é sugerido pela possibilidade ainda que mínima de malignização do NEVIL. (AU)

Inflammatory linear verrucous epidermal nevus and differential diagnosis with linear psoriasis: about a caseCASE REPORTMaria Isabel Muniz Zemero1, Maria Amélia Lopes dos Santos1, Alena Margareth Darwich Mendes1, Carla Andrea Avelar Pires1,Inflammatory Linear Verrucous Epidermal Nevus (ILVEN) is a rare clinical variety of verrucous epidermal nevus that manifests in early childhood as inflammatory lesions of keratosis surface, which coalesce and spread in band, following Blaschko lines. It makes a differential diagnosis with Linear Psoriasis; it is difficult to differentiate them given the clinical and histopathological aspects common to both, emphasizing the need to know the specific characteristics of each. The purpose of this report is to demonstrate a relatively rare affection, expressed in a 5-year-old girl, evolving from the first days of life with papulokeratosic plaques arranged linearly, followed by inflammatory signs and eroded areas, placed linearly, overtaking labia majora, perineum, the inner and upper face of the left thigh. Also, the patient showed keratotic papules and plaques in the posterior cervical region and external lateral border of the left foot plant, ascending along the posterior region of this limb. The clinical and histopathological criteria corroborate the diagnosis of ILVEN in differentiation with linear psoriasis, emphasizing the importance of establishing criteria/instruments to assist in distinguishing these two dermatoses in order to expedite the diagnosis, to optimize the treatment and minimize patients' discomfort. Long-term follow-up of patients with this disease is suggested due to the possibility, albeit minimal, of ILVEN malignancy. (AU)

Systematized Epidermal Nevus Syndrome Involving the Upper and Lower Eyelids Bilaterally

A 29-year-old woman presented with dark-colored raised lesions on both eyelids since early childhood. Ophthalmological examination revealed pigmented verrucous lesions on her upper and lower eyelids bilaterally. The patient had a history of generalized tonic-clonic seizures. Dermatological examination revealed hyperpigmented verrucous plaques arranged along lines of Blaschko on the neck, trunk, and arms. On the basis of these findings, the diagnosis of epidermal nevus syndrome (ENS) was made. She had surgery for debulking of the lesions. Histological analysis revealed hyperkeratosis with foci of parakeratosis, acanthosis, and papillomatosis, consistent with linear verrucous epidermal nevus. Postoperative residual lesions did not respond to oral acitretin therapy (10 mg/kg/day for 2 months). Systematized ENS can rarely cause linear verrucous nevi on the upper and lower eyelids on both sides. These patients should be investigated for accompanying systemic anomalies and followed for potential malignant transformation of the skin lesions.

Somatic KRAS mutation affecting codon 146 in linear sebaceous nevus syndrome.

Linear Sebaceous Nevus Syndrome is a rare disorder that presents with nevus sebaceus in association with corneal dermoids, colobomas, choroidal osteomas, and arachnoid cysts. It is thought to represent a mosaic RASopathy. These are disorders characterized by postzygotic somatic mutation in genes involved in RAS/MAPK signaling pathway. In this report we describe two patients with linear sebaceous nevus syndrome found to have mutations in codon 146 of KRAS with evidence of mosaicism. This specific mutation has previously been reported in Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis, two other mosaic RASopathies with predominantly cerebrooculocutaneous manifestations. These findings suggest that, while initially classified as different syndromes, these disorders should be evaluated and managed as a spectrum of related disorders.