Pigmented neurofibroma with hypertrichosis / Neurofibroma pigmentado con hipertricosis

Abstract Background: Pigmented (or melanocytic) neurofibroma (PN) constitutes only 1% of cases and is considered a rare variant of neurofibroma containing melanin-producing cells. In addition, the association of PN with hypertrichosis is infrequent. Case report: We describe the case of an 8-year-old male with a neurofibromatosis type 1 (NF1) diagnosis, who presented a light brown hyperpigmented plaque, smooth and well-demarcated, and hypertrichosis on the left thigh. The skin biopsy showed characteristics of neurofibroma; however, in the deep portion of the lesion, melanin deposits positive for S100, Melan-A, and HMB45 were observed, thus establishing the diagnosis of pigmented neurofibroma. Conclusions: Although PN is a rare subtype of neurofibroma, it is considered a chronically progressive benign tumor containing melanin-producing cells. These lesions can appear alone or in association with neurofibromatosis. Since this is a tumor that can be confused with other skin lesions, biopsy analysis is essential to differentiate it from other pigmented skin tumors, such as melanocytic schwannoma, dermatofibrosarcoma protuberans, neurocristic hamartoma, or neuronevus. Surveillance is part of the treatment, and surgical resection is sometimes performed.

Resumen Introducción: El neurofibroma pigmentado (NP) o melanocítico constituye solamente el 1% de los casos y se considera como una variante rara del neurofibroma que contiene células productoras de melanina. Además, la asociación de NP con hipertricosis es muy rara. Caso clínico: Se describe el caso de un paciente de sexo masculino de 8 años 2 meses de edad con diagnóstico de neurofibromatosis tipo 1 (NF1), quien presentaba en la cara anterior del muslo izquierdo una placa hiperpigmentada de color café claro, bien delimitada y de consistencia suave, e hipertricosis. La biopsia de piel presentó cambios característicos de neurofibroma; sin embargo, en la porción profunda de la lesión se observaron depósitos de melanina positivos para S100, Melan-A y HMB45, con lo que se estableció el diagnóstico de neurofibroma pigmentado. Conclusiones: Aunque el NP es un subtipo raro del neurofibroma, se considera que es un tumor benigno de evolución crónica de células productoras de melanina. Estas lesiones aparecen en solitario o asociadas con neurofibromatosis. Dado que es un tumor que puede confundirse con otras lesiones cutáneas, es fundamental el análisis de la biopsia para diferenciarlo de otros tumores cutáneos pigmentados, como el schwanoma melanocítico, dermatofibrosarcoma protuberans, hamartoma neurocrístico o neuronevus. La vigilancia es parte del tratamiento y, en ocasiones, se lleva a cabo la resección quirúrgica.

Dental anomalies in syndromes displaying hypertrichosis in the clinical spectrum

Abstract Hypertrichosis and dental anomalies may occur alone or in combination in the spectrum of many syndromes. To identify genetic entities characterized by hypertrichosis and dental anomalies, a search was performed in the Mendelian Inheritance in Man database with the terms "hypertrichosis" or "hirsutism" and "tooth" or "dental abnormalities." Nondependent androgen metabolism disturbances were classified as hypertrichosis. Genetic entities with hypertrichosis and dental anomalies were included in the study. Additional searches were performed in the PubMed and Orphanet databases, when necessary, in order to include data from scientific articles. An integrative analysis of the genes associated with the identified syndromes was conducted using STRING to characterize biological processes, pathways, and interactive networks. The p-values were subjected to the false discovery rate for the correction of multiple tests. Thirty-nine syndromes were identified, and dental agenesis was the most frequent dental anomaly present in 41.02% (n = 16) of the syndromes. Causative genes were identified in 33 out of 39 genetic syndromes. Among them, 39 genes were identified, and 38 were analyzed by STRING, which showed 148 biological processes and three pathways that were statistically significant. The most significant biological processes were the disassembly of the nucleosome (GO:0006337, p = 1.09e-06), chromosomal organization (GO:0051276, p = 1.09e-06) and remodeling of the chromatin (GO: 0006338, p = 7.86e-06), and the pathways were hepatocellular carcinoma (hsa05225, p = 5.77e-05), thermogenesis (hsa04714, p = 0.00019), and cell cycle (hsa04110, p = 0.0433). Our results showed that the identification of hypertrichosis and dental anomalies may raise the suspicion of one of the thirty-nine syndromes with both phenotypes.

Síndrome de POEMS: a propósito de un caso / POEMS syndrome: A case report

RESUMEN El síndrome POEMS es una enfermedad de patogenia desconocida. El acrónimo deriva de las principales manifestaciones clínicas de este cuadro: polineuropatía, organomegalia, endocrinopatía, gammapatía monoclonal y trastornos de la piel. Estudios recientes sugieren la asociación de mutaciones genéticas con inmunoglobulina λ. En este reporte presentamos el caso de un paciente de 56 años, con un cuadro clínico de diez meses de evolución. Al inicio, se presentó un edema en los miembros inferiores e hipertricosis, y luego aparecieron los síntomas gastrointestinales, linfadenopatía inguinal y parestesia de miembros inferiores. Enfatizamos la importancia de este caso clínico debido a que, en nuestro país, los informes de pacientes con el síndrome POEMS son escasos, y en el departamento de La Libertad no existe ningún reporte. Además, el tiempo para diagnosticar esta enfermedad es prolongado.

ABSTRACT POEMS syndrome is a disease of unknown pathogenesis. The acronym stands for the disease's main clinical manifestations: polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin disorders. Recent studies suggest the association of genetic mutations with immunoglobulin λ. We report the case of a 56-year-old male patient with a 10-month clinical picture, whose initial signs and symptoms were lower limb edema and hypertrichosis, followed by gastrointestinal symptoms, inguinal lymphadenopathy and lower limb paresthesia. We emphasize the importance of this clinical case, given the limited reports of POEMS syndrome at the national level and no reported cases in the department of La Libertad, and the long time it takes to diagnose such disease.

Approach to inherited hypertrichosis: A brief review

Hypertrichosis refers to the growth of hair, of an excessive amount and thickness, on any part of the body. It must be distinguished from hirsutism which is characterized by excess growth of hair in androgen-dependent areas on the upper lip, chin, chest, linea alba, thigh and axilla. Hypertrichosis may be localized or generalized, and congenital or acquired. Excess hair growth has a psychological impact on the child as well as the parents due to the cosmetic disfigurement it produces. Current treatment options are limited and not wholly satisfactory. Treatment should be customized according to the area, nature and amount of hair growth, age of the patient and personal preferences. In addition, when hypertrichosis occurs as a component of a syndrome, multidisciplinary management is required to address the associated systemic features. A detailed review of inherited generalized hypertrichosis is presented here with emphasis on clinical clues to identifying complex syndromes with multisystem involvement

Clinical efficacy of OPT intense pulsed light combined parameters in treatment of lip hairiness / 中华医学美学美容杂志

Objective:To carry out the clinical observation and research of OPT intense pulsed light combined parameters in the treatment of lip hairiness.Methods:A total of 94 female patients with lip hairiness who were treated with OPT intense pulsed light depilation were collected, of which 22 were treated with single parameter and 72 were treated with combined parameters, both once a month for 7 months. The treatment effects of the two groups were compared. From October 2013 to October 2019, the patients were collected from the Department of Medical Cosmetology, the Quzhou Affiliated Hospital of Wenzhou Medical University.Results:With the increase of treatment times, the curative effect of patients gradually appeared, and the χ 2 value was 10.87 in the single parameter group and 105.25 in the combined parameter group. The difference was statistically significant ( P<0.05). There was no statistical significance in the single parameter array between the two comparisons of different treatment times; there was statistical significance in the combined parameter group. The χ 2 value of treatment (1 vs. 3) times was 26.05, (1 vs. 7) times was 73.3, (3 vs. 7) times was 23.82 ( P<0.017). There was significant difference in the constituent ratio and total effective rate between the two groups after 3 and 7 times of treatment. The total effective rate of 3 times of treatment was 36.36% in single parameter group and 70.83% in combined parameter group; The total effective rate of 7 times of treatment was 59.09% in the single parameter group and 81.94% in the combined parameter group ( P<0.05). Conclusions:Combined parameters OPT intense pulsed light therapy has better effect on lip hairiness than single parameter, and the treatment is safe and has good clinical application value.

Hypertrichosis, trichomegaly, and androgenic alopecia related to cetuximab treatment

Anti-epidermal growth factor receptor (EGFR) antibodies are mainly used in the treatment of advanced stages of solid tumors as a targeted therapy to inhibit tumor proliferation. They cause many dermatological adverse reactions through inhibition of EGFR pathway in the skin. A 39-year-old female patient diagnosed with metastatic colon adenocarcinoma received oxaliplatin, fluorouracil, and folinic acid regimen with cetuximab. The patient noticed increase in fairy hair especially at facial area as well as in the whole body beginning after the first few cycles of treatment, after 3 months. Obvious hypertrichosis, androgenic alopecia, and trichomegaly were observed. Blood tests for androgenetic alopecia and hirsutism were studied. Hormonal levels were in normal range. Upper abdominal imaging to rule out any adrenal lesion was also normal. Previous studies reported found that cetuximab may cause alopecia, hypertrichosis on face and body, and trichomegaly. We have not encountered a combination of hypertrichosis, androgenic type alopecia, and trichomegaly in the literature

Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report / Síndrome de Wiedemann-Steiner por una nueva variante patogénica en KMT2A: reporte de un caso

Abstract Case Description: We report the case of a one-year-old girl who was diagnosed with Wiedemann-Steiner Syndrome based on the identification of a novel de novo frameshift mutation in the KMT2A gene by whole exome sequencing and supported by her clinical features. Clinical Findings: KMT2A mutations cause Wiedemann-Steiner Syndrome, a very rare genetic disorder characterized by congenital hypertrichosis, short stature, intellectual disability, and distinct facial features. Treatment and Outcome: Whole exome sequencing identified a novel frameshift variant: c. 4177dupA (p.Ile1393Asnfs * 14) in KMT2A; this change generates an alteration of the specific binding to non-methylated CpG motifs of the DNA to the protein. The genotype and phenotype of the patient were compared with those of earlier reported patients in the literature. Clinical Relevance: In diseases with low frequency, it is necessary to establish a genotype-phenotype correlation that allows the establishment of therapeutic and follow-up goals. The phenotype comparation with other reported cases did not show differences attributable to sex or age among patients with Wiedemann-Steiner Syndrome. Whole exome sequencing allows identifying causality in conditions with high clinical and genetic heterogeneity like hypertrichosis.

Resumen Descripción del caso: Se reporta el caso de una paciente femenina de un año de edad, diagnosticada con Síndrome de Wiedemann-Steiner basado en la identificación de una nueva variante patogénica de novo de tipo frameshift en el gen KMT2A Mediante secuenciación de exoma usando el enfoque de trio, sumado a sus características clínicas. Hallazgos clínicos: las mutaciones en KMT2A causan el Síndrome de Wiedemann-Steiner, un desorden genético muy raro caracterizado por hipertricosis congénita, talla baja, retardo mental variable y fenotipo facial distintivo, los cuales se encuentran en la paciente reportada. Resultado: La Secuenciación de exoma completo encontró una variante de tipo frameshift: c.4177dupA (p. Ile1393Asnfs * 14) en KMT2A, este cambio a nivel génico genera una alteración de la unión específica a motivos CpG no metilados del DNA a la proteína. El genotipo y el fenotipo de la paciente fue comparado con los pacientes reportados previamente en la literatura. Relevancia clínica: En enfermedades con baja frecuencia como la aquí reportada es necesario establecer correlaciones genotipo-fenotipo que permitan establecer planes terapéuticos y de seguimiento. El análisis realizado no evidenció diferencias atribuibles a sexo o edad entre los pacientes diagnosticados con Síndrome de Weidemann-Steiner. La secuenciación de exoma permitió identificar causalidad en este caso, cuya característica principal de hipertricosis se asocia con alta heterogeneidad clínica y genética.

Wiedemann-Steiner syndrome caused by novel mutation of KMT2A gene: one case report and literature review / 中华内分泌代谢杂志

Objective To analyze the clinical and biochemical,as well as genetic characteristics of a patient with Wiedemann-Steiner syndrome (WDSTS).Methods The clinical data of a patient with WDSTS were collected.The patient was treated with recombinant human growth hormone (rhGH) combined with gonadotrophine-releasing hormone agonist (GnRHa).Blood samples of the patient and her parents were taken for whole-Exome Sequencing (WES).Relevant literatures about KMT2A mutations were reviewed.Results The 5-year old girl presented with growth retardation,with height 100 cm (-2.4 SD),torpid reaction,and facial anomalies including low hairline,thick eyebrow and hair,hypertelorism,a wide nasal bridge.She had small and puffy hands and feet,excessive hair around back of neck,bilateral forearm and lower limbs.Her GH peak level was 26.6 ng/ml during GH stimulation test.She was re-examined at the age of 10.4 years,with severe short stature (120 cm/-3.58 SD) and a Tanner stage 2 of breast development.Her bone age was found to be approximately 11.4 years.Height increased from 120 cm at the age of 10.4 years to 147.3 cm after rhGH treatment combined with GnRHa for 2.5 years.rhGH therapy alone continued for 1.1 years and a height of 150 cm was reached at the age of 14.9 years,with bone age 14 years.Gene sequencing revealed a de novo frameshift mutation (c.10051 delA,p.Thr3351 Leufs * 17) of exon 27 in KMT2A gene of the patient,but without any mutation in her parents.Through a literature review,seventy-one patients with WDSTS (including present case) presented with intellectual disability (70/71),facial anomalies (70/71),short stature (50/71),and hypertrichosis (39/71).Conclusion Patients presented with short stature,typical facial dysmorphism,intellectual disability,and hypertrichosis should be considered for WDSTS.The mutation p.Thr3351Leufs * 17 in the KMT2A gene detected in our patient is a novel mutation.This is so far the first report of WDSTS patient who was successfully treated with a combination of GH and GnRHa at the onset of puberty to improve her adult height.

Hipertricosis cubital en una paciente con pubarquia precoz: Caso clmico / Hypertrichosis cubiti in a girl with precocious puberty: Case report

La hipertricosis cubital es un aumento localizado de la densidad, longitud y espesor del vello. Es una entidad benigna con muy escasos pacientes descritos en la literatura médica (alrededor de medio centenar). La mitad de los casos descritos asocian otros defectos o malformaciones, y la otra mitad son problemas puramente estéticos. La pubarquia precoz en niñas se define como el inicio del vello púbico antes de los 8 años de edad. Se presenta a una paciente de 6 años con la asociación no descrita previamente de hipertricosis cubital y pubarquia precoz.

Hypertrichosis cubiti is a localized increase in hair density, length and thickness. It is an uncommon and benign entity with very few patients described in the medical literature (more or less than half a hundred). Half of the described patients associate other defects or malformations and the other half are purely aesthetic cases. Early pubarche in girls is defined as the onset of pubic hair before 8 years of age. We present a six-year-old patient with the association not previously described of hypertrichosis cubiti and precocious pubarche.

Hair manifestations of endocrine diseases: A brief review

Hair disorders are common in clinical practice and depending upon social and ethnic norms, it can cause significant psychosocial distress. Hair growth, cycling and density are regulated by many endogenous factors, mainly circulating hormones. Thus, diseases affecting the endocrine system can cause varied changes in physiological hair growth and cycling. Diagnosis and treatment of these disorders require a multidisciplinary approach involving a dermatologist, gynecologist and an endocrinologist. In this review, we briefly discuss the influence of hormones on the hair cycle and hair changes in various endocrine disorders.

The First Reported Case of Fibrous Hamartoma of Infancy with Hyperhidrosis and Hypertrichosis in Korea

Fibrous hamartoma of infancy (FHI) is a rare entity with a benign nature. The typical clinical features are a single, slowly growing, painless mass on the trunk that appears within the first 2 years of life. We report a 13-month-old boy who presented with a plaque on the lower back since 4 months of age. The plaque had gradually become larger and firm, and hyperhidrosis and hypertrichosis were noticed. No visible connection between the spinal cord and the lesion was found in radiologic studies, indicating a disease other than spinal dysraphism. Histopathological findings showed well-defined fibrous trabeculae, mature adipose tissue, and primitive mesenchymal cells, all consistent with FHI. This is the first case of FHI presenting with hyperhidrosis and hypertrichosis reported in Korea.

Síndrome H: primer caso pediátrico reportado en América Latina / H syndrome: First reported paediatric case in Latin America

Introducción: El síndrome H es una enfermedad genética extremadamente rara de compromiso multisistémico, el cual clínicamente puede ser reconocido de forma precoz, ofreciendo de manera oportuna un seguimiento, tratamiento específico y asesoramiento genético. Objetivo: Presentar un caso con características «típicas del síndrome H¼ para favorecer su identificación precoz. Caso clínico: Varón de 8 años de edad, evaluado por tumoraciones testiculares, lesiones dérmicas tipo hiperpigmentación con hipertricosis, retraso del lenguaje, talla baja, deformidades articulares, hipoacusia neurosensorial bilateral, anemia, hipergammaglobulinemia y alteraciones óseas. En los estudios histológicos de la piel y las masas testiculares se observó infiltración linfoplasmocitaria. El secuenciamiento del gen SLC29A3 detectó una mutación homocigota c.1087 C>T (p.Arg363Trp; rs387907067) concluyente con el síndrome H, la cual ha sido reportada previamente. Conclusiones: Este es el primer caso reportado en Latinoamérica del síndrome H, cuyas características descritas son parte del espectro clínico. El hallazgo clínico principal, que orienta al diagnóstico, es la hiperpigmentación acompañada de hipertricosis.

Introduction: H Syndrome is an extremely rare genetic disease, with a multisystemic character and which can be identified in early childhood, offering the opportunity of specific treatment and genetic counselling. Objective: To present a clinical case with "typical" characteristics of H Syndrome. Clinical case: The case is presented of an 8-year-old male patient who presented with testicular tumours and skin lesions characterised by hyperpigmentation with hypertrichosis, language delay, short stature, and joint deformities. He also presented with bilateral sensorineural hearing loss, anaemia, hypergammaglobulinaemia, and bone disorders. Histopathology studies of the skin and testicular masses reported lymphoplasmacytic infiltration. Sequencing analysis of gene SLC29A3 showed the homozygote mutation c.1087 C>T (p.Arg363Trp; rs387907067). Conclusions: These findings are consistent with H syndrome, and this is the first reported case in Latin America. The key to the diagnosis is the finding of hyperpigmentation with hypertrichosis.

Hipertricosis cervical anterior: caso dínico / Anterior cervical hypertrichosis: case report

La hipertricosis cervical anterior no sindrómica (OMIM N° 600457) es un desorden genético caracterizado por un parche de pelo a nivel de la prominencia laríngea. Se presenta a un niño de 12 años de edad con hipertricosis cervical anterior e hipertricosis generalizada leve, sin alteraciones neurológicas, oftalmológicas ni esqueléticas, en seguimiento clínico por un lapso de 10 años.

The non-syndromic anterior cervical hypertrichosis (OMIM N° 600457) is a genetic disorder characterized by a patch of hair at the level of the laryngeal prominence. We present a 12-year-old boy with anterior cervical hypertrichosis and mild generalized hypertrichosis. He has no neurological, ophthalmological or skeletal anomalies. The clinical follow up is 10 years.

Infantile generalized hypertrichosis caused by topical minoxidil

Abstract Rare cases of hypertrichosis have been associated with topically applied minoxidil. We present the first reported case in the Brazilian literature of generalized hypertrichosis affecting a 5-year-old child, following use of minoxidil 5%, 20 drops a day, for hair loss. The laboratory investigation excluded hyperandrogenism and thyroid dysfunction. Topical minoxidil should be used with caution in children.

Three Korean patients with Cantú syndrome caused by mutations in ABCC9 and their clinical manifestations

Cantú syndrome (CS, OMIM 239850) is a very rare autosomal dominantly inherited genetic disease characterized by congenital hypertrichosis, neonatal macrosomia, a distinct facial features such as macrocephaly, and cardiac defects. Since the first description by Cantú et al. in 1982, about 50 cases have been reported to date. Recently, two causative genes for CS has been found by using exome sequencing analyses: ABCC9 and KCNJ8 . Most cases of clinically diagnosed CS have resulted from de novo mutations in ABCC9. In this study, we report three independent Korean children with CS resulting from de novo ABCC9 mutations. Our patients had common clinical findings such as congenital hypertrichosis, distinctive facial features. One of them showed severe pulmonary hypertension and hypertrophic cardiomyopathy, which require medical treatment. And, two patients had a history of patent ductus arteriosus. Although two of our patients had shown early motor developmental delay, it was gradually improved during follow-up periods. Although CS is quite rare, there are the concerns about development of various cardiac problems in the lifetime. Therefore, an accurate diagnosis followed by appropriate management and genetic counseling should be provided to CS patients.

Do you know this syndrome? / Você conhece esta síndrome?

Congenital Hypertrichosis Lanugionsa is a rare autosomal dominant genetic disorder, with fewer than 50 cases reported in the literature. It is characterized by excessive lanugo hair, sparing only the mucous membranes, palms and soles. It may be associated with other organic abnormalities and should form part of the dermatologist's current knowledge. We discuss some aspects of the syndrome in question arising from the case report of a 2-year-old female patient, black, with classic clinical presentation, with no other associated congenital abnormalities.

A hipertricose Lanugionsa Congênita é uma desordem genética rara, autossômica dominante, com menos de 50 casos descritos na literatura. É caracterizada por pêlo lanugo excessivo, poupando apenas membranas mucosas, palmas e plantas. Pode estar associada a outras anormalidades orgânicas, devendo ser de conhecimento do dermatologista. Discutiremos aspectos da síndrome em questão a partir do relato de caso de uma paciente do sexo feminino, negra, 02 anos, com apresentação clínica clássica, sem outras anormalidades congênitas associadas.

Essential trichomegaly: case report / Tricomegalia essencial: relato de caso

The present study reports two cases of symptomatic essential trichomegaly. Trichomegaly may develop in various diseases, including anorexia nervosa, hypothyroidism, pregnancy, pretibial myxedema, systemic lupus erythematosus, vernal keratoconjunctivitis, and uveitis. The exact incidence trichomegaly is unknown, and the condition remains sporadically reported. Two cases of symptomatic trichomegaly without any associated systemic disorder are presented in this paper.

O presente estudo tem por objetivo relatar dois casos de tricomegalia essencial com diminuição da acuidade visual. A tricomegalia pode se desenvolver em várias doenças, incluindo anorexia nervosa, hipotireoidismo, gravidez, mixedema pré-tibial, lúpus eritematoso sistêmico, ceratoconjuntivite primaveril, e uveíte. A incidência da tricomegalia essencial é desconhecida e a condição permanece esporadicamente relatada. São apresentados dois casos de tricomegalia sintomática em pacientes sem distúrbios sistêmicos associados.

Acquired Localized Hypertrichosis Induced by Internal Fixation and Plaster Cast Application

Hypertrichosis refers to increased vellus hair growth and is independent to androgen excess. The acquired localized hypertrichosis (ALH) is one of the typical hypertrichosis, which mainly results from chronic irritation, inflammation, friction, and occlusion by plaster of Paris. Here, we report a young boy who had ALH on his right hand following a closed fracture with internal fixation and plaster cast application. The case is unusual because the hairy area is limited to the operative region of internal fixation. We suggest that the local vascular changes and skin inflammation induced by internal fixation and plaster cast application may be associated with ALH.

Acquired Localized Hypertrichosis Induced by Internal Fixation and Plaster Cast Application

Hypertrichosis refers to increased vellus hair growth and is independent to androgen excess. The acquired localized hypertrichosis (ALH) is one of the typical hypertrichosis, which mainly results from chronic irritation, inflammation, friction, and occlusion by plaster of Paris. Here, we report a young boy who had ALH on his right hand following a closed fracture with internal fixation and plaster cast application. The case is unusual because the hairy area is limited to the operative region of internal fixation. We suggest that the local vascular changes and skin inflammation induced by internal fixation and plaster cast application may be associated with ALH.