Genodermatosis hiperpigmentadas

Introducción: Las genodermatosis son consideradas enfermedades raras, por ser poco frecuentes y afectar un número reducido de individuos. El poco conocimiento sobre ellas en el campo de las ciencias médicas y los pobres recursos terapéuticos disponibles dificulta su diagnóstico, con una alta morbilidad. En Las Tunas representan 22,22 % de las enfermedades genéticas. Entre ellas se pueden citar presentando alteraciones de la pigmentación con hiperpigmentación: incontinencia pigmenti, síndrome de LEOPARD, mastocitosis, la neurofibromatosis, síndrome de Noonan, y con hiper e hipopigmentación están las didimosis. Objetivo: Compilar información actualizada acerca de las características y criterios diagnósticos de las enfermedades genéticas nombradas que faciliten su estudio y seguimiento de los pacientes. Métodos: Revisión de la literatura disponible en SciELO, PubMed Central, Medline Plus, Clinical key, Orphanet y OMIM. Los descriptores utilizados fueron: genética médica, enfermedades dermatológicas genéticas. Durante el proceso de revisión se consultaron 7 libros y 16 artículos publicados en los últimos 5 años. Análisis y síntesis de la información: Se revisó la clasificación de las genodermatosis hiperpigmentarias, y de estas las características clínicas, el tipo de herencia, el gen afectado, los criterios diagnósticos y estudios complementarios. Conclusiones: Conocer las características y criterios diagnósticos de las enfermedades genéticas presentadas permite diagnosticarlas, diferenciarlas entre ellas y favorecer el seguimiento de los pacientes afectados.

Introduction: Genodermatoses are considered rare diseases, as they are rare and affect a small number of individuals. The poor knowledge about them in the field of medical sciences and the poor therapeutic resources available hinder their diagnosis, with high morbidity. In Las Tunas they represent 22.22% of genetic diseases. Among them, can be cited presenting pigmentation alterations with hyperpigmentation: incontinentia pigmenti, LEOPARD syndrome, mastocytosis, neurofibromatosis, Noonan syndrome, and with hyper and hypopigmentation are the didymosis. Objective: To compile updated information about the characteristics and diagnostic criteria of the genetic diseases named to facilitate their study and follow-up of patients. Methods: Literature review available in SciELO, PubMed Central, Medline Plus, Clinical key, Orphanet and OMIM. The descriptors used were: medical genetics, genetic dermatological diseases. During the review process, 7 books and 16 articles published in the last 5 years were consulted. Analysis and synthesis of information: The classification of hyperpigmentary genodermatoses was reviewed, and of these the clinical characteristics, the type of inheritance, the affected gene, the diagnostic criteria and complementary studies. Conclusions: Knowing the characteristics and diagnostic criteria of the genetic diseases presented allows to diagnose them, differentiate them between them and favor the follow-up of the affected patients.

Ecological impacts of climate change on the snow leopard (Panthera unica) in South Asia / Impactos ecológicos da mudança climática no leopardo-da-neve (Panthera uncia) no sul da Ásia

Snow leopard (Panthera unica) is a felid which lives in the highly rugged areas of alpine regions in different mountain ranges of South and Central Asia. This solitary animal needs large spaces for its ranges but due to climate change and relatively faster rate of global warming in South Asian mountain ranges, its habitat is going to shrink and fragment by tree-line shifts and change in hydrology of the area. Vegetative modification of montane flora and competition with domestic goats will create its prey's population to decline along with a chance of a direct conflict and competition with the common leopard. Common leopard being more adaptable, grouped, and larger in size can be a significant stressor for a smaller and solitary snow leopard. Habitat would shrink, and snow leopard can possibly move upslope or northward to central Asian ranges and their predicted migratory patterns are unknown.

O leopardo-das-neves (Panthera uncia) é um felídeo que vive nas áreas altamente acidentadas das regiões alpinas, em diferentes cadeias de montanhas do sul e do centro da Ásia. A revisão atual tem o objetivo de abordar a questão da possível perda de hábitat do leopardo da neve em razão da interferência humana nas montanhas do sul e do centro da Ásia. Esse animal solitário precisa de grandes espaços para suas faixas, mas, devido às mudanças climáticas e à taxa relativamente mais rápida de aquecimento global nas cadeias montanhosas do sul da Ásia, seu hábitat vai encolher e fragmentar-se por mudanças nas linhas de árvores e na hidrologia da área. Este artigo teve o objetivo de rever vários estudos sobre os impactos das mudanças climáticas em um futuro próximo e distante sobre os hábitats do leopardo-da-neve. O estudo revelou que a modificação vegetativa da flora da montanha e a competição com cabras domésticas poderiam ocasionar na diminuição da população de suas presas, com a chance de um conflito direto e competição com leopardo comum. Leopardo comum sendo mais adaptável, agrupado e maior em tamanho pode ser um estressor significativo para um leopardo-da-neve menor e solitário. Conclusão: devido ao encolhimento do hábitat, o leopardo-da-neve pode, possivelmente, mover-se para cima ou para o norte, para faixas da Ásia Central com padrões migratórios não previstos.

Ecological impacts of climate change on the snow leopard (Panthera unica) in South Asia

Abstract Snow leopard (Panthera unica) is a felid which lives in the highly rugged areas of alpine regions in different mountain ranges of South and Central Asia. This solitary animal needs large spaces for its ranges but due to climate change and relatively faster rate of global warming in South Asian mountain ranges, its habitat is going to shrink and fragment by tree-line shifts and change in hydrology of the area. Vegetative modification of montane flora and competition with domestic goats will create its preys population to decline along with a chance of a direct conflict and competition with the common leopard. Common leopard being more adaptable, grouped, and larger in size can be a significant stressor for a smaller and solitary snow leopard. Habitat would shrink, and snow leopard can possibly move upslope or northward to central Asian ranges and their predicted migratory patterns are unknown.

Resumo O leopardo-das-neves (Panthera uncia) é um felídeo que vive nas áreas altamente acidentadas das regiões alpinas, em diferentes cadeias de montanhas do sul e do centro da Ásia. A revisão atual tem o objetivo de abordar a questão da possível perda de hábitat do leopardo da neve em razão da interferência humana nas montanhas do sul e do centro da Ásia. Esse animal solitário precisa de grandes espaços para suas faixas, mas, devido às mudanças climáticas e à taxa relativamente mais rápida de aquecimento global nas cadeias montanhosas do sul da Ásia, seu hábitat vai encolher e fragmentar-se por mudanças nas linhas de árvores e na hidrologia da área. Este artigo teve o objetivo de rever vários estudos sobre os impactos das mudanças climáticas em um futuro próximo e distante sobre os hábitats do leopardo-da-neve. O estudo revelou que a modificação vegetativa da flora da montanha e a competição com cabras domésticas poderiam ocasionar na diminuição da população de suas presas, com a chance de um conflito direto e competição com leopardo comum. Leopardo comum sendo mais adaptável, agrupado e maior em tamanho pode ser um estressor significativo para um leopardo-da-neve menor e solitário. Conclusão: devido ao encolhimento do hábitat, o leopardo-da-neve pode, possivelmente, mover-se para cima ou para o norte, para faixas da Ásia Central com padrões migratórios não previstos.

Ecological impacts of climate change on the snow leopard (Panthera unica) in South Asia / Impactos ecológicos da mudança climática no leopardo-da-neve (Panthera uncia) no sul da Ásia

Snow leopard (Panthera unica) is a felid which lives in the highly rugged areas of alpine regions in different mountain ranges of South and Central Asia. This solitary animal needs large spaces for its ranges but due to climate change and relatively faster rate of global warming in South Asian mountain ranges, its habitat is going to shrink and fragment by tree-line shifts and change in hydrology of the area. Vegetative modification of montane flora and competition with domestic goats will create its prey's population to decline along with a chance of a direct conflict and competition with the common leopard. Common leopard being more adaptable, grouped, and larger in size can be a significant stressor for a smaller and solitary snow leopard. Habitat would shrink, and snow leopard can possibly move upslope or northward to central Asian ranges and their predicted migratory patterns are unknown.

O leopardo-das-neves (Panthera uncia) é um felídeo que vive nas áreas altamente acidentadas das regiões alpinas, em diferentes cadeias de montanhas do sul e do centro da Ásia. A revisão atual tem o objetivo de abordar a questão da possível perda de hábitat do leopardo da neve em razão da interferência humana nas montanhas do sul e do centro da Ásia. Esse animal solitário precisa de grandes espaços para suas faixas, mas, devido às mudanças climáticas e à taxa relativamente mais rápida de aquecimento global nas cadeias montanhosas do sul da Ásia, seu hábitat vai encolher e fragmentar-se por mudanças nas linhas de árvores e na hidrologia da área. Este artigo teve o objetivo de rever vários estudos sobre os impactos das mudanças climáticas em um futuro próximo e distante sobre os hábitats do leopardo-da-neve. O estudo revelou que a modificação vegetativa da flora da montanha e a competição com cabras domésticas poderiam ocasionar na diminuição da população de suas presas, com a chance de um conflito direto e competição com leopardo comum. Leopardo comum sendo mais adaptável, agrupado e maior em tamanho pode ser um estressor significativo para um leopardo-da-neve menor e solitário. Conclusão: devido ao encolhimento do hábitat, o leopardo-da-neve pode, possivelmente, mover-se para cima ou para o norte, para faixas da Ásia Central com padrões migratórios não previstos.

Mutation analysis of the PTPN11 gene in a pedigree with LEOPARD syndrome / 中华皮肤科杂志

Objective:To determine mutations in the PTPN11 gene in a family with LEOPARD syndrome.Methods:Clinical evaluation was carried out in a large pedigree with confirmed LEOPARD syndrome diagnosed in Hwa Mei Hospital, University of Chinese Academy of Sciences. Peripheral blood samples were obtained from 4 patients and 2 unaffected healthy members in the family, as well as 100 unrelated healthy controls. DNA was extracted from the blood samples, and PCR was performed to amplify all exons of the PTPN11 genes, followed by Sanger sequencing.Results:There were 14 members in 3 generations of the family, 6 of whom were affected (3 males and 3 females) , demonstrating an autosomal dominant inheritance pattern. Skin lesions were mainly distributed on the face, trunk and limbs, accompanied by special facial features and cardiovascular system abnormalities. A missense mutation c.1632G>T (p.R558L) in the PTPN11 gene was identified in the 4 patients, which resulted in the substitution of arginine by leucine at amino acid position 558. This mutation had not yet been reported previously. No mutation was detected in the PTPN11 gene in the 2 unaffected family members or 100 healthy controls.Conclusion:The missense mutation c.1632G>T in exon 13 of the PTPN11 gene may be the molecular basis for LEOPARD syndrome in this family.

Head and neck injuries after leopard attack: Presentation and management / 中华创伤杂志(英文版)

Leopard attacks on humans are reported most often from the Indian subcontinent. The bite wounds are complex injuries infected with polymicrobial inoculum and may present as punctures, abrasions, lacerations or avulsions. The presentation and acceptable treatment of these injuries vary according to the wound. We hereby describe the clinical presentation and treatment of a male victim with leopard bite injuries on the head and neck region. As bite injuries are commonly found on and around the face, maxillofacial surgeons should be familiar with the therapy. Through thorough clinical and radiological examination, it is essential to prevent missing any hidden injuries, which can easily turn lethal. To benefit the rural population, more health facilities need to be established in remote areas.

Modern Naturalistic Enclosures: Comparatively an Enhanced Management Practice of Captive Felids in the Zoological Park

Due to the expansion of human population, threat for existence of all wild animals is gradually increasing. They are driven to exist in smaller areas and in the worst case scenario extinction. Zoos are being encouraged to improve the animal’s physical and social surroundings. In this study, the modern naturalistic enrichment introduced to large felids tiger, lion and leopard at Gandhi Zoological Park, Gwalior, Madhya Pradesh, was studied. The study has envisaged evaluating if the modern naturalistic enclosures could increase activity levels and how the felids opted to these enclosure. The enclosures were divided into menageries and natural enrichment, which had a varying degree of opportunities for the animals to climb, hide and rest above ground level. The environmental enrichment effects on the proportion of time spent engaging in active behaviors and stereotypic pacing in the large felids were compared and recorded using instantaneous scan sampling. The results of this study revealed clearly that large felids kept in more natural and complex enclosures performed less stereotypic pacing (unnatural behavior), and more exploratory (natural) behaviour than those housed in less natural enclosures reducing the stress level in captive tigers will enhance the animals’ overall physical and psychological well being, which will in turn increase the success of captive breeding programs. Furthermore, these results suggest that captive tigers should be housed in large enclosures containing natural substrate and vegetation, water pools, ample shade, a variety of resting locations and enrichment items

A 'Full House' Glomerulopathy in a Patient with Multiple Lentigines Syndrome: A Case Report / Glomerulopatía 'full house' en un paciente con síndrome de lentigos múltiples: un reporte de caso

ABSTRACT Multiple lentigines syndrome (MLS) is an autosomal dominant disease which is usually diagnosed clinically by the presence of characteristic features. The molecular genetic testing is an adjuvant diagnostic tool to identify the mutation of particular genes such as PTPN11 genes, RAF1, BRAF or MAP2K1 genes. This syndrome was formerly known as LEOPARD syndrome or Noonan syndrome with multiple lentigines. 'LEOPARD syndrome ' is an acronym of characteristic features (Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness). There was no previous case report about any glomerulonephropathy in association with MLS. We present a case of a patient with MLS with recurrent nephrotic syndrome who was found to have histologic evidence of 'full house ' glomerulopathy.

RESUMEN El síndrome de lentigos múltiples (SLM) es una enfermedad autosómica dominante que de modo general se diagnostica clínicamente por la presencia de rasgos característicos. La prueba genética molecular es una herramienta de diagnóstico auxiliar utilizada para identificar la mutación de genes específicos tales como los genes PTPN11, RAF1, BRAF, o los genes MAP2K1. Este síndrome se conocía anteriormente como síndrome del leopardo o síndrome de Noonan con múltiples lentigos. El síndrome toma su nombre del acrónimo en inglés LEOPARD, que describe sus rasgos característicos (L lentigos; E conducción electrocardiográfica de las anormalidades; O hipertelorismo ocular; P estenosis pulmonar; A anormalidades de los genitales; R retardo del crecimiento; y D deafness, 'sordera ' en inglés), y que fuera introducido por Gorlin et al en 1969. No existía ningún reporte de caso anterior sobre glomerulonefropatía asociada con SLM. Presentamos el caso de un paciente con SLM con síndrome nefrótico recurrente en el que se halló evidencia histológica de glomerulopatía 'full house'.

A rare case of unilateral diffuse melanocytic proliferation

A 67-year-old woman presented with metamorphopsia in the right eye. Leopard mottling was seen temporal to the fovea oculus dexter with corresponding hyper- and hypo-autofluorescent lesions on fundus autofluorescence. Spectral domain-optical coherence tomography revealed hyperreflective dots in the retinal pigment epithelium and choroid with subretinal fluid (SRF). Intravitreal bevacizumab was administered with which SRF resolved, albeit with increase in the areas of mottling. The patient was diagnosed to have metastatic ductal carcinoma of the right breast. It is important to bear in mind that the well-known entity of bilateral diffuse uveal melanocytic proliferation can rarely present unilaterally.

A Rare Case of Left Ventricular Noncompaction in LEOPARD Syndrome

No abstract available.

Four cases of PTPN11 associated RASopathies:Analysis of the correlation between gene mutation and clinical phenotype / 中华内分泌代谢杂志

PTPN11 is the most common mutation gene of RAS disease, which is located in the upstream of RAS/MAPK pathway and participates in signal transduction. Because the molecular mechanism of RAS's disease involves the same pathway, it may present a certain commonality in clinic, but the different genotypes with PTPN11 mutation may also express different phenotypes. Therefore, it is not easy to identify and diagnose this disease early in clinic. The present article aims to analyze the correlation between the clinical phenotype and genotype of 4 patients with RAS disease.

Do you know this syndrome? Leopard syndrome

ABSTRACT Hypertrophic cardiomyopathy is known as Leopard syndrome, which is a mnemonic rule for multiple lentigines (L), electrocardiographic conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormalities of genitalia (A), retardation of growth (R), and deafness (D). We report the case of a 12-year-old patient with some of the abovementioned characteristics: hypertelorism, macroglossia, lentigines, hypospadias, cryptorchidism, subaortic stenosis, growth retardation, and hearing impairment. Due to this set of symptoms, we diagnosed Leopard syndrome.

Diagnostic laparoscopy in a leopard cat (Prionailurus bengalensis) with intercostal abdominal hernia and hepatic lipidosis

Intercostal abdominal hernia in the 11th intercostal space was identified in a leopard cat. Although mild leukopenia was found in laboratory examinations, no remarkable abnormality was revealed in medical imaging. To investigate abdominal organs, diagnostic laparoscopy was performed after hernia repair. In laparoscopic view, closure of the herniation site and a lesion with whitish discoloration in the liver (left medial lobe) were observed. Subsequently, laparoscopic liver biopsy was performed against the affected hepatic tissue. Histologically, the sample was diagnosed as mild hepatic lipidosis. Laparoscopy is considered useful for abdominal visceral examination and liver biopsy in a leopard cat patient.

Parasites of two coexisting invasive sailfin catfishes (Siluriformes: Loricariidae) in a tropical region of Mexico

Currently many species of Amazon sailfin catfishes (Loricariidae) have been introduced to wild environments outside their native range. There is, however, little knowledge about their role as vectors of parasites that can infect native fish or even humans through its consumption. The aim of the present study was to determine the parasitic fauna of the invasive sailfin catfish species Pterygoplichthys pardalis (leopard pleco) and P. disjunctivus (vermiculated pleco) from freshwater systems in the southeast of Mexico. Four ectoparasite species were found in P. pardalis (1 protozoan: Ichthyophthirius multifiliis ; 2 monogeneans: Urocleidoides vaginoclastrum and Heteropriapulus heterotylus ; 1 digenean: Clinostomum sp.), and only one in Heteropriapulus disjunctivus (H. heterotylus ). No endoparasites were found. Ichthyophthirius multifiliis , U. vaginoclaustrum and Clinostomum sp. , were considered as rare species (prevalence <5%) since they were found in a single individual of P. pardalis . H. heterotylus was the only species shared among both host species and it occurs throughout the year. This monogenean species represents 96% of total parasites recorded in P. pardalis and 100% in P. disjunctivus. Monthly values of prevalence, intensity and abundance of H. heterotylus in both host species showed important intra-annual variations, but not differ significantly between both hosts.(AU)

Actualmente muchas especies de peces conocidos como plecos o peces diablo (Loricariidae) han sido introducidas en ambientes silvestres fuera de su área de distribución natural. Sin embargo, hay poco conocimiento acerca de su papel como vectores de parásitos que puedan infectar a los peces nativos o incluso los seres humanos a través de su consumo. El objetivo del presente estudio fue determinar la fauna parasitaria de las especies de plecos Pterygoplichthys pardalis (pleco leopardo) y P. disjunctivus (pleco vermiculado) en sistemas de agua dulce del sureste de México. Fueron encontradas cuatro especies de ectoparásitos en P. pardalis (1 protozoario: Ichthyophthirius multifiliis ; 2 monogeneos: Urocleidoides vaginoclastrum y Heteropriapulus heterotylus ; 1 digeneo: Clinostomum sp.) y una en P. disjunctivus (H. heterotylus ). No se encontraron endoparásitos. Ichthyophthirius multifiliis, U. vaginoclaustrum y Clinostomum sp. fueron consideradas como especies raras (prevalencia <5%), ya que estuvieron en un solo individuo de P. pardalis . Heteropriapulus heterotylus fue la única especie compartida entre ambas especies de peces y que estuvo presente durante todo el año, y representó el 96% del total de parásitos registrados en P. pardalis y el 100% en P. disjunctivus. La prevalencia, intensidad media y abundancia media de H. heterotylus mostraron importantes variaciones intra-anuales en ambas especies de peces, pero no difirió significativamente entre ambos hospederos.(AU)

Síndromes lentiginosos familiares / Family lentiginous syndromes

Los síndromes lentiginosos familiares (SLF)involucran un amplio espectro fenotípico, que abarcadesde una predisposiciónhereditaria a desarrollar lentigos sinenfermedad sistémica hasta un riesgo incrementado en la formación de hamartomas, hiperplasias y otras neoplasias.El prototipo de SLF es el síndrome de Peutz-Jeghers, pero también se incluyen dentro de este grupo de patologías el complejo de Carney, el síndrome LEOPARD, el síndrome de Bannayan-Riley-Ruvalcaba, la enfermedad de Cowden, el síndrome de Laugier-Hunziker, la disección arterial con lentiginosis y las lentiginosis benignas (lentiginosis unilateral parcial y centrofacial).La presencia de lentigos es uno de los hallazgos semiológicos más prominentes en estos cuadros y probablemente, más que una característica clínica asociada, sea el reflejo de la convergencia entre vías de señalización de importancia crucial para la embriogénesis, la diferenciación de la cresta neural, el crecimiento de los órganos diana y el funcionamiento de una amplia gama de tejidos.En el presente trabajo se realiza una descripción detallada de cada uno de los SLF, incluyendo el mecanismo molecular involucrado, las manifestaciones clínicas, la metodología diagnóstica, el seguimiento y el tratamiento.

Familial lentiginosis syndromes involve a broad phenotypic spectrum that includesfrom hereditary predisposition to presentlentigines without systemic disease to the increased risk of hamartomas, hyperplasia and other malignancies development.The prototype is Peutz-Jeghers syndrome, but Carney complex, LEOPARD syndrome, Bannayan-Riley-Ruvalcaba syndrome, Cowden's disease, Laugier-Hunziker syndrome, arterial dissection with lentigines and benign lentiginosis (partial and unilateral centrofaciallentigines) are also included in this group.The presence of lentigines is the most relevant finding and probably more than a clinical feature associated represents a reflection of the convergence of crucial signaling pathways that are important to embryogenesis, differentiation of the neural crest, target organs growth and funcional of a wide range of tissues.In this paper we perform a detailed description of these syndromes, including the molecular mechanisms involved, clinical manifestationsdiagnostic procedures, monitoring, and treatment.

Mutation analysis of the PTPN11 gene in a family with LEOPARD syndrome / 中华皮肤科杂志

Objective To detect mutations in the PTPN11 gene in a family with LEOPARD syndrome (LS).Methods Clinical data were collected from a 7-year-old boy patient with LS.Peripheral blood was obtained from the patient,both of his parents,and 50 healthy controls.All the exons and their flanking sequences of the PTPN11 gene were amplified by PCR followed by direct DNA sequencing.Results A heterozygous missense mutation c.836A ＞ G,which resulted in a substitution of TAT by TGT at codon 279,was found in exon 7 of the PTPN11 gene in the patient.No mutation was detected in the unaffected parents or healthy controls.Conclusion The missense mutation c.836A ＞ G may be the cause of the phenotype of LS in this family.

Anaplasma sp. and hemoplasma infection in leopard cats (Prionailurus bengalensis euptilurus) from Korea

This study examined the occurrence of Anaplasma spp. and hemoplasma infection in leopard cats, Prionailurus bengalensis euptilurus, in Korea. Twenty-nine biological samples were tested by molecular analysis. Two (6.9%) and eight (27.6%) tested specimens were positive for Anaplasma bovis and hemoplasma infection, respectively. Based on our results, Anaplasma/Ehrlichia spp. and hemoplasma are regularly infecting leopard cat populations of Korea. Considering their endangered status, regular monitoring of infection by arthropod-borne pathogens known to cause clinical symptoms in feline hosts such as Anaplasma/Ehrlichia spp. and hemoplasma would be crucial as part of ongoing conservation efforts.

Síndrome de Leopard: relato de uma rara doença autossômica dominante / Leopard?s syndrome: report on a rare autosomic dominant disease

A síndrome de Leopard é uma rara doença autossômica dominante, causada por mutação em PTPN11. O nome da síndrome foi introduzido por Gorlin (1969), mas foi primeiramente descrita por Zeisle e Becker (1935). O nome da síndrome corresponde às iniciais das manifestações clínicas típicas: lentigos (L), defeitos de condução eletrocardiográficos (E), hipertelorismo ocular (O), estenose pulmonar (P), alterações genitais (A), retardo do crescimento (R) e "deafness" - surdez (D). Corresponde a uma doença dismorfogenética complexa de penetrância variável...

Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome

Hearing loss (HL) is one of the most frequent clinical manifestations of patients who suffer with multi-systemic genetic disorders. HL in association with other physical stigmata is referred to as a syndromic form of HL. LEOPARD syndrome (LS) is one of the disorders with syndromic HL and it is caused by a mutation in the PTPN11 or RAF1 gene. In general, 5 year old children who undergo cochlear implantation usually show a marked change in behavior regarding sound detection within the first 6 months of implant use, but word identification may not be exhibited for at least another 6-12 months of implant use. We herein report on a 5-year-old girl with LS. Her clinical manifestations including bilateral sensorineural HL, which indicated the diagnosis of LS. We confirmed the diagnosis by identifying a disease-causing mutation in the PTPN11 gene, which was a heterozygous missense mutation Ala461Thr (c.1381G>A). She underwent cochlear implantation (CI) without complications and she is currently on regular follow-up at postoperative 1 year. This is the first reported case of CI in a patient with LS in the medical literature.

LEOPARD Syndrome with PTPN11 Gene Mutation / 대한피부과학회지

LEOPARD syndrome is an autosomal dominant inherited disease with multiple congenital anomalies. LEOPARD is an acronym for Lentigines, Electrocardiographic conduction defects, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness. The disorder is caused by mutations in the PTPN11 gene or RAF1 gene. Here we report two typical cases of LEOPARD syndrome with lentigines, electrocardiograph abnormality, ocular hypertelorism which were proven to be the results of genetic mutations. Moreover, one 12-year-old boy showed growth retardation, deficiency in testosterone; the other 5-year-old girl had undergone implantation of a cochlear device and was diagnosed as having hypertrophic cardiomyopathy which has been managed with a beta blocker. Each patient showed a PTPN11 gene mutation: Thr468Met in exon 12 and Tyr279Cys in exon 7, respectively.