Epidermal Nevus Research Articles

Differences in clinical characteristics and lesion proteomics between inflammatory linear verrucous epidermal nevus and local verrucous epidermal nevus

BackgroundVerrucous epidermal nevus (VEN) are keratinocytic epidermal nevus that appear at birth or in early childhood. They exhibit a range of manifestations, depending on the patient's age. VEN are rarely encountered in clinical practice, and the systemic and comprehensive clinical characteristics of VEN have not been well investigated. Furthermore, the association between tandem mass tag (TMT)-based quantitative proteomics and the VEN phenotype is still unclear. ObjectivesThis study investigated the differences in the clinical characteristics and lesion proteomics between inflammatory linear VEN (ILVEN) and local VEN. MethodsThis retrospective study enrolled 125 patients with histopathologically diagnosed VEN who presented to our hospital between 2019 and 2021. We collected the clinical data of all patients with VEN using a self-designed questionnaire. The expression of proteins in VEN lesions was analyzed using TMT proteomics technology. ResultsIn total, there were 125 patients with VEN that were evaluated, including 67 (53.60%) patients with local VEN and 58 (46.40%) with ILVEN. No significant differences were found in sex, onset age, and lesion location between patients with local VEN and those with ILVEN (all P > 0.05). Significant differences were found in the onset site and pruritus scores between patients with ILVEN and those with local VEN (all P < 0.05). According to the TMT proteomics results, 89 proteins were up or downregulated with at least 1.3-fold (upregulated: 38, downregulated: 51; P < 0.05) in ILVEN lesions relative to VEN lesions. The top 10 differentially expressed proteins between ILVEN and local VEN lesions were OGN, NT5C3A, ADD1, OLFML1, DHRS1, CALML5, SAMHD1, SFRP2, SPRR1B, and SERPINB13. The upregulated proteins are mainly involved in neutrophil activation, neutrophil-mediated immunity, and p53 signaling pathway (hsa04115). The downregulated proteins are mainly involved in cellular response to cytokine stimulus, cell adhesion, Th1 and Th2 cell differentiation. In total, based on the differentially expressed proteins between ILVEN and local VEN, five pathways that may be associated with the pathogenesis of inflammation, including CAMs (P = 0.006), Th1 and Th2 cell differentiation (P = 0.017), PPAR signaling pathway (P = 0.023), Th17 cell differentiation (P = 0.024), and p53 signaling pathway (P = 0.041). ConclusionsClinical data of the patients revealed that ILVEN lesions presented with intense pruritus and inflammatory change. Differentially expressed proteins between ILVEN and local VEN are mainly involved in multiple inflammation related pathways associated with the pathogenesis mechanisms of pruritus. LimitationsThe small sample size in clinical characteristic and proteomics study is one of the most significant limitations in our study. The inflammation associated proteins and signal pathways in the pathogenesis of pruritus in ILVEN is not explored. SignificanceIn this study, we found the lesions of ILVEN patients presented with intense pruritus and inflammational change. A total of 89 proteins were up or downregulated with at least 1.3-fold (upregulated: 38, downregulated: 51; P < 0.05) in ILVEN lesions relative to VEN lesions. On the other hand, the etiology of itch in ILVEN mainly associated with inflammation, but the exact mechanisms was still unclear. We found the differentially expressed proteins between ILVEN and local VEN enriched five pathways that may be associated with the pathogenesis of inflammation and pruritus.

EP282: Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth

PIK3CA-related overgrowth spectrum (PROS) and large PIK3CA-associated lymphatic malformations of the head and neck (HNLM) pose unique treatment challenges. Traditional therapies often include multiple invasive (ie, sclerotherapy or surgery) interventions with suboptimal functional and cosmetic outcomes. HNLM is the most common pathology in the head and neck with PROS, and additional pathology may include facial infiltrating lipomatosis (FIL), megalencephaly capillary malformation syndrome (MCAP), Klippel-Trenaunay-Weber syndrome and congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis and spinal syndrome (CLOVES).

Unusual Cause for Abdominal Pain and Chronic Constipation in a Young Female Patient

Question: A 29-year-old woman of Middle Eastern descent presented to our outpatient clinic with a history of progressive abdominal pain spanning >6 months, located mostly in the lower left quadrant. Furthermore, the patient reported chronic constipation, paradoxical diarrhea, and malnutrition with a weight loss of >12 kg in 1 year. The clinical examination revealed a generally cachectic young woman with a disproportionally distended abdomen with ubiquitous tenderness with the punctum maximum in the lower left quadrant. The patient reported chronic use of analgesics, mostly opioids, and cannabis. A colonoscopy showed left-sided ulcerative colitis with histologic proof crypt abscesses and submucosal lipomatosis. Magnetic resonance imaging demonstrated pronounced left-sided large bowel distension and massively increased visceral soft tissue surrounding the whole colon, most prominently the sigmoid (Figure A). In infancy, the patient had undergone a metatarsal amputation of both feet owing to severe deformities. In her adolescence, she had a tumorous connective tissue growth removed, having caused immobilization of the left hip joint. In addition, large soft tissue tumors were apparent in the clinical and radiological examination in pleural, intercostal, and paravertebral locations, accompanied by severe scoliosis. The patient had normal cognitive development and no intellectual disability was apparent. Psychiatric evaluation revealed an anxiety disorder. According to patient history, 1 seizure had taken place at an early age. There were no other known family members who exhibited similar symptoms. What is the diagnosis? See the Gastroenterology web site (www.gastrojournal.org) for more information on submitting your favorite image to Clinical Challenges and Images in GI. The patient suffers either from Proteus or CLOVES syndrome. Proteus syndrome is an extremely rare condition of progressive asymmetric overgrowth of body parts, epidermal or connective tissue nevi, lipomas, and cranial deformities owing to sporadic somatic mosaicism. Proteus syndrome is associated with mosaic mutation in the AKT1 gene encoding the serine-threonine kinase V-Akt murine thymoma viral oncogene homolog 1.1Cohen M.M. Proteus syndrome review: molecular, clinical, and pathologic features.Clin Genet. 2014; 85: 111-119Crossref PubMed Scopus (89) Google Scholar CLOVES syndrome acronymically stands for congenital lipomatous overgrowth, vascular malformations, epidermal nevi and scoliosis, spinal or skeletal abnormalities. CLOVES syndrome seems to be caused by a mosaic activating mutation in PIK3CA, the gene encoding for the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha. Similar to Proteus syndrome, CLOVES syndrome causes overgrowth and malformations. However, its manifestations are more proportional, less deforming, and usually present already prenatally.2Martinez-Lopez A. Blasco-Morente G. Perez-Lopez I. Herrera-Garcia J.D. et al.CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).Clin Genet. 2017; 91: 14-21Crossref PubMed Scopus (69) Google Scholar Importantly, gastrointestinal manifestation is rather atypical for both conditions. Owing to limited information regarding birth and early childhood, a clinical differentiation between CLOVES and Proteus syndromes could not be established in this patient. A previous genetic consultation and sequence analysis of the coding exons of the PTEN gene from whole blood had been normal, making a diagnosis of the group of PTEN hamartoma tumor syndromes (including Proteus-like syndrome) with germline pathogenic PTEN variants, unlikely.3Pilarski R. PTEN hamartoma tumor syndrome: a clinical overview.Cancers. 2019; 11: E844Crossref PubMed Scopus (73) Google Scholar Sequencing of the genes PIK3CA and AKT1 was not desired by the patient. The mass surrounding the colon caused painful obstruction of the gastrointestinal passage. After careful consideration, we recommended an open resection of the colon and the intra-abdominal mass. We performed a laparotomy. Exploration revealed dilation of the entire colon with a diameter of ≤15 cm and hypertrophy of the colonic wall; the rectum was not affected. During dissection of the colon, multiple venous collaterals in the retroperitoneum were apparent, consistent with a diagnosis of Proteus or CLOVES syndrome (vascular malformations are seen in both syndromes). Owing to the dilation and enormous soft tissue mass surrounding the colon, we performed a subtotal colectomy with complete mesocolic excision, formation of a rectal stump, and end-ileostomy. The resected colon measured >120 cm in length and had a weight of >10 kg (Figure B). Histopathological examination showed diffuse tumorous submucosal and subserosal lipomatosis and singular inflammatory fibroid polyps (Figure C). The findings were basically consistent with Proteus syndrome. After a prolonged hospitalization and parenteral feeding, the patient was discharged from the hospital with a normal passage through the ileostomy and a significant improvement in abdominal and gastrointestinal symptoms.

Syndroms associated with benign skin tumors

Benign skin tumors represent awide category of diseases. The diagnosis is usually provided by the clinical aspect and the patient history. The pathological examination is not always considered necessary and in most cases the treatment is removal of the lesion by cryotherapy, electrosurgery or laser ablation. Deep phenotyping, including genetic and epigenetic findings, provided the basis of anew understanding of the pathogenetic mechanisms. Some benign skin tumors can be part of syndromes and the dermatologist should be aware of the extracutaneous associations defining these rare disorders: epidermal nevus can be associated with vascular malformations; nevus sebaceous can be associated with cerebral, ocular, and skeletal defects; nevus Becker is associated with cerebral, ocular, and skeletal defects; pilomatricomas appear earlier than colorectal cancer in Gardner's syndrome; tuberous sclerosis complex can associate not only central nervous system lesions but also pulmonary, cardiac or renal manifestations.

Benign skin neoplasms in children

There are many different types of skin neoplasms in children and most are benign. Dermatologists should be able to differentiate between the various types of benign skin neoplasms and be able to recommend optimal treatment to concerned patients. Surgical removal of benign skin neoplasms is often the only treatment option. The aim of this paper is to provide a general overview of epidermal lesions (e.g., inflammatory linear verrucous epidermal nevus [ILVEN], nevus sebaceous), tumors of the epidermal appendages (e.g. pilomatrixoma), cutaneous neoplasms (e.g. angiofibroma), fibromatoses (e.g., knuckle pads), tumors comprised of fat, muscle, or bone tissue (e.g., osteoma cutis, subungual exostosis), epidermal cysts and pseudocysts, and pathologic fibrosis reactions after dermal injury (keloid). Scientific data are scarce and only in the last decade has it been possible to perform histopathological examinations and genetic studies together with detailed phenotyping to gain new understanding of the pathogenetic mechanisms.

An Open Label Study to Assess the Safety and Efficacy of Burosumab, an Investigational Antibody to FGF23, in a Single Pediatric Patient with Epidermal Nevus Syndrome and Associated Hypophosphatemic Rickets

An Open Label Study to Assess the Safety and Efficacy of Burosumab, an Investigational Antibody to FGF23, in a Single Pediatric Patient with Epidermal Nevus Syndrome and Associated Hypophosphatemic Rickets

Phacomatosis pigmentokeratotica.

A 20 yr old female† presented to the department of Dermatology and Sexually Transmitted Diseases, Safdarjung Hospital, New Delhi, India, in February 2019, with progressive asymptomatic brownish-black lesions on the face, neck and chest since birth. Examination revealed yellowish-brown verrucous papules and plaques arranged linearly along the lines of Blaschko on the forehead, nose, right pre-auricular area, neck and chest, suggestive of naevus sebaceous (Fig. 1A and B). Light brown-coloured patch of size 10 × 7 cm with overlying dark brown-to-black macules and papules, suggestive of speckled lentiginous naevus, was present on the left side of the face, extending from forehead to mandibular region (Fig. 2). Biochemical, ophthalmic, neurological and skeletal evaluation revealed no abnormality. Histopathological examination from verrucous plaque showed hyperkeratosis, acanthosis, papillomatosis and follicular plugging in the epidermis. Dermis showed increased number of enlarged sebaceous glands placed abnormally higher, with a few immature hair structures and dilated apocrine glands (Fig. 3). These features were consistent with naevus sebaceous.Fig. 1: (A) Yellowish-brown verrucous papules and plaques arranged linearly along lines of Blaschko, suggestive of naevus sebaceous. (B) Naevus sebaceous over the right pre-auricular area (inset showing similar lesion over anterior chest).Fig. 2: Light brown-coloured patch of size 10 × 7 cm with overlying dark brown-to-black macules and papules, suggestive of speckled lentiginous naevus.Fig. 3: Hyperkeratotic, acanthotic and papillomatous epidermis with follicular plugging. There are an increased number of closely set large sebaceous glands (black arrow) that are placed abnormally higher in the dermis along with a few immature hair structures (yellow arrow). Lower dermis shows dilated apocrine glands (blue arrow) (Hematoxylin and eosin, x100).Phacomatosis pigmentokeratotica (PPK) is a rare form of epidermal naevus syndrome characterized by coexistence of an organoid naevus with sebaceous differentiation along Blaschko’s lines and speckled lentiginous naevus in a checkerboard pattern. Our case represents a rare form of PPK without any extra-cutaneous features. Patients with PPK are at risk of developing basal cell carcinoma and syringocystadenoma papilliferum in naevus sebaceous and malignant melanoma in speckled lentiginous naevus; hence, regular follow up is necessary. The patient was planned for serial surgical excision of naevus sebaceous. Acknowledgment: Authors acknowledge Dr Shruti Sharma, Scientist D, National Institute of Pathology, Indian Council of Medical Research, New Delhi, for providing histopathologic image. Conflicts of Interest: None.

Verrucous Epidermal Nevus with Unusual Presentations: A Case Series of 5 Cases.

Verrucous Epidermal Nevus with Unusual Presentations: A Case Series of 5 Cases.

Clinico-pathological correlation of linear dermatoses along the lines of Blaschko: An observational study

Several epidemiological studies have described linear dermatoses; however, only few studies have correlated linear dermatoses along Blaschko’s lines with the histopathological findings. The aims of this study were to investigate the clinical patterns of various linear dermatological lesions along Blaschko’s lines and investigate the correlations between these dermatological lesions and their histopathological features. Patients who attended our dermatology out-patient department with linear dermatoses along the Blaschko’s lines were included in the study. Detailed history was obtained, clinical examination was performed, and a final provisional clinical diagnosis was noted. Subsequently, biopsy of the lesions was performed for histopathological examination. Of 62 patients who presented with linear lesions along the Blaschko’s lines, 45 patients underwent biopsy and histopathological examination. Of 45 patients who underwent biopsy, clinico-pathological correlation was observed in 100% of those diagnosed with lichen striatus and linear morphea, 89% of those diagnosed with hypomelanosis of Ito, 80% of those diagnosed with linear epidermal nevus, 75% of those diagnosed with lichen planus, and 67% of those diagnosed with nevus depigmentosus. The importance of correlation of linear lesions with their histopathological features in dermatology cannot be over emphasized. However, 100% correlation may be wishful thinking, and a correlation can help choose the appropriate line of management. Our results highlight this discrepancy and add to the knowledge on linear dermatosis.

Verrucous epidermal nevus: diagnostic difficulties.

Along Blachko’s lines are distributed diseases with Mendelian inheritance such as incontinentia pigmenti, polygenic hereditary diseases such as psoriasis or atopic dermatitis (3), nevi such as verrucous epidermal nevus (VEN) and its inflammatory variant (1), and acquired diseases such as lichen striatus (LS). All these diseases share a condition of mosaicism, that is, they presuppose the existence of a gene mutation, often post-zygotic, that gives rise to a clone of cells different from all the others. The type of mutated gene is responsible for the different morphology of these diseases, but the distribution on the skin of the mutated clone is always the same; therefore, it does not depend on the gene, but on the time in which the mutation occurred and on the stereotyped movements of the migrations that skin cells undergo during fetal life. If the nevus is very extensive and therefore secondary to an early mutation, other organs may be involved such as the nervous system, the eye, the skeletal system, as happening in epidermal nevus syndrome (4) or even some gonadal cells with the risk that the mutation is transmitted to the zygote of the offspring thus giving rise to a generalized inherited disease (5). VEN is usually present at birth; when it is localized in hidden locations or when it initially manifests with just hyperpigmented lesions it may become evident later. However, it is exceptional that it manifests itself at 8 years as in the present case. Its earliness and its morphology are able in most cases to easily differentiate it from an acquired inflammatory condition such as LS. LS is a self-healing inflammatory skin disease, usually asymptomatic, which affects the first years of age, usually between 5 and 15 years, and is distributed linearly along Blaschko’s lines, suggesting that on the line in which it occurs there is a clone of mutated cells as a result of a post-zygotic mutation: this mutation would give the cells involved a particular susceptibility towards an exogenous agent that, upon its arrival, would cause the transient inflammatory reaction (2). There are various hypotheses on the pathogenetic mechanisms that lead to the inflammatory reaction and its spontaneous regression. The present case has posed problems of differential diagnosis between VEN and LS. The histological findings were not able to eliminate the clinical doubt, indeed they added another possible differential diagnosis, i.e. inflammatory linear verrucous epidermal nevus. The latter diagnosis was discarded due to the lack of itching and obvious clinical signs of inflammation. Only prolonged clinical observation over time resolved the diagnostic doubt thanks to the persistence of the lesions and the greater evidence of papillomatous and warty structures.

Targeted Next Generation Sequencing Expands Genotype in Patients with PIK3CA-Related Overgrowth Spectrum (PROS)

Background: Disorders of somatic mosaicism (DoSM) are caused by mutations that arise post-zygotically and are present in only a specific part of the body. These mutations alter the function and regulation of key genes in cell proliferation pathways, including the PI3K/AKT/mTOR pathway, and show significant overlap with mutations identified in cancer(McNulty et al. Am J Hum Genet, 2019). PIK3CA-Related Overgrowth Spectrum (PROS) is an umbrella term that encompasses a variety of overgrowth syndromes caused by post-zygotic, somatic gain-of-function PIK3CA mutations with low-level mosaicism (Luks et al. J Pediatr, 2015). The clinical phenotype of PROS is heterogeneous and many tissue types can be affected. This often makes clinical diagnosis challenging. The use of cancer genomics in patients with vascular anomalies may aid in establishing a genetic diagnosis and expand use of targeted medical therapies.Methods: Three patients who presented with clinical symptoms of PROS underwent targeted next generation sequencing of affected tissue using OncoPanel. Oncopanel is a genomic assay that detects somatic mutations, copy number variations and structural variants in 447 genes implicated in cancer.Results: Three patients with a PROS phenotype demonstrated somatic mutations in genes distinct from PIK3CA.Case 1: A 15-year-old female presented with a painful right leg mass, calf atrophy, contracture of the knee, leg-length discrepancy, and severe limp. Histology was consistent with fibroadipose vascular anomaly (FAVA) versus kaposiform hemangioendothelioma (KHE). Given her significant functional impairment, treatment with Sirolimus was initiated with significant improvement in appearance and functionality. OncoPanel testing revealed a PIK3C2B c.2881G>A (p.G961S) mutation.Case 2: A 12-month-old male was noted at birth to have a diffuse capillary malformation, multiple lymphatic malformations, macrodactyly of his bilateral hands and leg length-discrepancy, consistent with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Spinal/Skeletal Anomalies/Scoliosis (CLOVES) syndrome. He underwent numerous surgical de-bulking procedures, epiphysiodesis, sclerotherapy, and laser therapy with continued disease progression. OncoPanel revealed a PIK3R1c.1731_1738delAGACCAATinsATGTAAGAAAG (p.D578_Y580delinsCKKD) mutation.Case 3: A 10-month-old female presented with a diffuse capillary malformation and leg-length discrepancy. She subsequently developed multiple painful and progressive lymphatic lesions over her left arm and chest which did not respond to sclerotherapy. Due to high clinical suspicion for PROS, she underwent targeted genetic testing via droplet digital PCR (ddPCR) to detect the five most common variants (C420R, E542K, E545K, H1047L, H1047R) in PIK3CA, but no hotspot mutations were identified. Over the next year and a half, the patient had two biopsies performed, PIK3CA ddPCR testing performed twice, and OncoPanel testing performed twice. OncoPanel testing of the second tissue biopsy ultimately resulted in the identification of a PIK3R1 c.1723-1731del p.K575_R577del mutation.Conclusion: The clinical diagnosis of DoSM is often challenging. While the use of cancer genomics for diagnostic purposes in vascular anomalies is uncommon, its use continues to broaden our understanding of syndromes related to alterations in the PI3K/AKT/mTOR pathway. PIK3CB encodes a catalytic subunit of PI3K, p110β, and is dysregulated in certain types of cancer. PIK3R1 encodes multiple regulatory subunits of PI3K and acts as a negative regulator of PIK3CA function. Both gain-of-function of PIK3CB or loss-of-function of PIK3R1 lead to inappropriate activation of PIK3CA, and our cases highlight that mutations in other genes can lead to the clinical phenotype of PROS. It is reasonable to expect that patients with alterations in genes that activate PIK3CA may benefit from medical treatment with direct PIK3CA inhibitors. Limiting diagnostic testing to evaluation of the PIK3CA gene alone may yield negative results and preclude patient eligibility for treatment with novel therapies. The use of next-generation sequencing (NGS) designed to detect somatic variations in cancer will likely play a pivotal role in detecting variants in vascular anomalies in the future and in expanding our understanding of genetic alterations involved in PROS. DisclosuresNo relevant conflicts of interest to declare. OffLabel Disclosure:Sirolimus is used off-label for the treatment of vascular anomalies.

Controversy on the management of patients carrying RET p.V804M mutation.

RET p.V804M is classified as a moderate risk mutation for familial medullary thyroid cancer (FMTC). There is a significant controversy on the management of patients carrying this mutation. We describe a family incidentally discovered to have this mutation and review the literature on RET p.V804M mutation. The proband was born to first-degree relative parents. He was noticed to have hypertrophy of some parts of the body and vascular skin changes. Whole-exome sequencing of DNA extracted from a skin biopsy showed a mutation in the PIK3CA (c.3132T>G, p.ASN1044LYS). This variant was not found in DNA extracted from blood. This confirmed the diagnosis of CLOVES syndrome (Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi and Scoliosis, skeletal or spinal anomalies). Another incidentally found mutation in the skin biopsy and blood sample was RET p.V804M. Although there was no family history of MTC or MEN 2 syndromes, family screening revealed RET p.V804M mutation and FMTC in the proband's father, paternal grandmother, one sister, and one aunt. There was significant interfamilial heterogeneity in the age of presentation and pathology. A review of literature showed that RET p.V804M mutation is a moderate risk mutation associated with late-onset FMTC, usually at middle to old age. Despite the controversy and the heterogeneous presentation of patients with RET p.V804M mutation, our study and review of the literature suggest that this seemingly "low" risk mutation is associated with late-onset but potentially aggressive MTC. This indicates the need for follow-up and timely intervention based on calcitonin level elevation.

Woolly hair nevus caused by somatic mutation and Costello syndrome caused by germline mutation in HRAS: Consider parental mosaicism in prenatal counseling

Germline mutations in HRAS cause Costello syndrome (CS), while mosaic mutations in HRAS show a variability of phenotypes, ranging from mild features such as keratinocytic epidermal nevus (KEN), sebaceous nevus (SN), woolly hair nevus (WHN) with KEN, to severe manifestations of CS with cutis laxa. We report two individuals. The first was a 2-year-old boy with woolly hair nevus (WHN) without any other cutaneous involvement, in whom somatic HRAS mutation (c.34G>A; p.Gly12Ser) was identified in his affected scalp and hair follicle specimens. This is the first reported WHN type 1 (no cutaneous involvement) patient caused by somatic HRAS mutation. The other individual was a 12-year-old girl with CS caused by germline HRAS mutation (c.34G>A), that manifested with coarse face, palmoplantar keratoderma, deep palmar and plantar creases, hyperpigmented patches, asymmetry and deformity of lower limbs, atopic dermatitis, as well as mental retardation. Of note, a linear hyperpigmented plaque was observed in her father's lumbosacral region. Although the father refused to provide semen and skin tissue for further examination, this reminds us of possible mosaicism in parents of individuals with germline de novo HRAS mutation and underlines the importance of parental evaluation for prenatal counseling.

Histopathological information other than the skyline in the diagnosis of papular epidermal nevus with a "skyline" basal cell layer.

Histopathological information other than the skyline in the diagnosis of papular epidermal nevus with a "skyline" basal cell layer.

Isolated Unilateral Growth With Epidermal Nevi and Lipomatous Tissue Overgrowth.

Isolated Unilateral Growth With Epidermal Nevi and Lipomatous Tissue Overgrowth.

An Unusual Pigmented Plaque in a Newborn.

An Unusual Pigmented Plaque in a Newborn.

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.

Topical sirolimus therapy for nevus sebaceus and epidermal nevus: A case series

To the Editor: Nevus sebaceus (NS) and epidermal nevus (EN) are relatively common birthmarks. Treatment can be challenging because these lesions may occur in locations where excision would likely result in disfigurement. Some patients decline surgery but still desire treatment to diminish the visibility of their birthmark.

Becker\u2019s nevus syndrome: a case report\xa0

BackgroundBecker’s nevus syndrome is a syndrome characterized by the presence of a Becker’s nevus with ipsilateral breast hypoplasia or hypoplastic defects of the muscle, skin, or skeleton. The nevus usually consists of a circumscribed, unilateral, irregularly shaped hyperpigmented macule, commonly occurring around the anterior upper trunk, with/without hypertrichosis and/or acneiform lesions. This rare syndrome has not been reported in our locality to the best of our knowledge.Case presentationWe report the case of a 15-year-old Igbo female patient who presented to our pediatric endocrinology clinic, University of Nigeria Teaching Hospital, Enugu, with complaints of asymmetry of the breasts and hyperpigmented macules on the side. Based on her symptoms, diagnosis of Becker’s nevus syndrome was made. The diagnosis of Becker’s nevus syndrome is mostly clinical, based on the presence of a Becker’s nevus with ipsilateral breast hypoplasia or hypoplastic defects of the muscle, skin, or skeleton. In our patient, there was a Becker’s nevus with ipsilateral breast hypoplasia. This syndrome, belonging to the class of epidermal nevus syndromes, is very rare, and is usually benign. She was placed on spironolactone tablets 50 mg daily, which have been associated with an improvement in the size of the hypoplastic breast, and her fears were allayed.ConclusionThis syndrome has not been reported in our locality to the best of our knowledge and, therefore, has a propensity for misdiagnosis by clinicians because of its rarity. We therefore report this to create awareness among clinicians regarding this condition that is associated with much psychosocial trauma among patients, and that can be easily managed with oral spironolactone.

25959 Clinical and histopathologic evolution of inflammatory linear verrucous epidermal nevus in a pediatric patient

An 11-year-old girl presented with lines of “pink bumps” down her right arm, which first appeared 2 years prior and had worsened over the preceding 2-3 months. The lesions were intensely pruritic. She denied exposures or trauma to the area. She reported a history of asthma, seasonal allergies, and eczema. Physical examination revealed 50 4- to 9-mm pink-brown, flat-topped erythematous and scaly papules arranged linearly following a Blaschkoid distribution along the right dorsolateral arm, forearm, and wrist. Punch biopsy demonstrated superficial and deep perivascular and perieccrine lymphocytic inflammation, suggestive of lichen striatus (LS), which correlated with the initial clinical presentation. The patient was counseled regarding the self-limited nature of LS; however, she remained symptomatic for 2 more years with minimal response to topical or intralesional steroids. The papules became more verrucous and inflammatory, and this change, coupled with the lack of expected resolution, led to rebiopsy. Histopathology revealed areas of parakeratosis overlying an absent granular layer alternating with orthokeratosis overlying a thickened granular layer, a pattern indicative of inflammatory linear verrucous epidermal nevus (ILVEN). ILVEN is a rare form of congenital epidermal nevus that, unlike LS, may be characterized by a chronic, progressive course. Early ILVEN can mimic LS and linear hyperkeratotic lesions including linear psoriasis, linear lichen planus, and linear verruca. This case highlights the clinical and histopathological evolution of ILVEN and emphasizes the importance of subsequent biopsies for definitive diagnosis in refractory cases. Recognition of ILVEN points clinicians toward alternative treatments, including laser therapy, which is currently under consideration.