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1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 41(3): 351-355, 2024 Mar 10.
Artigo em Chinês | MEDLINE | ID: mdl-38448028

RESUMO

OBJECTIVE: To explore the clinical phenotype and genetic characteristics of a child with Hypotrichosis 14. METHODS: A child who had presented at the Henan Provincial People's Hospital on May 4, 2020 due to hair thinning was selected as the study subject. Clinical data of the child was collected. Peripheral venous blood samples were collected from the child and her parents. Genomic DNA was extracted and subjected to whole exome sequencing. Candidate variants were validated by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a 5-year-old female, had presented with thin, soft lanugo-like hair which was easy to fall off. The child was found to harbor compound heterozygous missense variants of the LSS gene, namely c.1609G>A (p.V537M) in exon 17 and c.802T>G (p.F268V) in exon 8, which were respectively inherited from her father and mother. Both variant sites were highly conserved, though based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as variants of unknown significance (PM2_Supporting+PP3+PP4). CONCLUSION: The c.1609G>A (p.V537M) and c.802T>G (p.F268V) compound heterozygous variants of the LSS gene probably underlay the clinical phenotype in this patient.


Assuntos
Alopecia , Biologia Computacional , Hipotricose , Humanos , Criança , Feminino , Pré-Escolar , Éxons , Genômica
2.
Medicina (B Aires) ; 84(1): 163-167, 2024.
Artigo em Espanhol | MEDLINE | ID: mdl-38271945

RESUMO

Bazex syndrome is a paraneoplastic disorder most commonly linked to squamous cell carcinomas of the upper aerodigestive tract, followed by lung cancer and other malignancies. It manifests through three stages of skin involvement that mirror the tumor's progression. Remarkably, skin lesions precede tumor symptoms or diagnosis in two-thirds of cases, underscoring the crucial role of suspecting this condition as it can promptly reveal an underlying neoplasm. Treatment primarily focuses on addressing the root neoplasm, with recurrent skin lesions potentially indicating tumor relapse. In this context, we present a clinical case involving a male patient whose manifestation of this syndrome facilitated the timely diagnosis of lung adenocarcinoma. This case underscores the significance of understanding this uncommon syndrome and its link to cancer, enabling early and accurate oncological diagnosis.


El síndrome de Bazex es una enfermedad paraneoplásica que se asocia con mayor frecuencia a carcinomas de células escamosas del tracto aerodigestivo superior, seguido en frecuencia por el cáncer de pulmón y otras neoplasias. Afecta a la piel en tres etapas que tienen un comportamiento paralelo al crecimiento del tumor. En dos tercios de los casos, las lesiones cutáneas preceden a los síntomas o al diagnóstico del tumor. De ahí la importancia de la sospecha de esta entidad, que puede desenmascarar a la neoplasia asociada en una etapa temprana. Su tratamiento consiste en tratar la neoplasia subyacente. La recurrencia de las lesiones cutáneas puede revelar la recaída del tumor. Comunicamos el caso clínico de un paciente de sexo masculino en el cual el hallazgo de este síndrome permitió realizar el diagnóstico de un adenocarcinoma de pulmón, lo cual destaca la importancia de conocer a esta rara enfermedad y su asociación con cáncer, para poder realizar el diagnóstico oncológico de forma temprana y oportuna.


Assuntos
Carcinoma Basocelular , Hipotricose , Neoplasias Pulmonares , Síndromes Paraneoplásicas , Neoplasias Cutâneas , Humanos , Masculino , Recidiva Local de Neoplasia , Neoplasias Cutâneas/patologia , Carcinoma Basocelular/diagnóstico , Carcinoma Basocelular/patologia , Síndromes Paraneoplásicas/diagnóstico , Síndromes Paraneoplásicas/etiologia , Síndromes Paraneoplásicas/patologia , Neoplasias Pulmonares/complicações , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/patologia
3.
Mol Genet Genomic Med ; 12(1): e2320, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37947113

RESUMO

BACKGROUND: Patients with biallelic variants in the lanosterol synthase (LSS) gene has been reported to exhibit phenotypes as follows: non-syndromic form of hypotrichosis, congenital cataracts, and alopecia with intellectual disability or growth retardation. However, genotype-phenotype correlations in the LSS gene are still not completely clear. METHODS: In this study, we reported a Chinese girl who had congenital cataracts with hypotrichosis. The trio exome sequencing was performed to elucidate the genetic cause of the patient. RESULTS: We identified compound heterozygous variants (c.296G>A, p.G99D and c.1025T>G, p.I342S) in the LSS gene. Both variants altered the amino acid coding at highly conserved amino acid residues and were predicted to be deleterious using prediction software. CONCLUSION: Our report expands the spectrum of variants in the LSS gene and will be helpful for genotype-phenotype correlations study.


Assuntos
Catarata , Hipotricose , Transferases Intramoleculares , Feminino , Humanos , Hipotricose/genética , Alopecia/genética , Catarata/genética , Aminoácidos
6.
Einstein (Sao Paulo) ; 21: eRC0480, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37970954

RESUMO

Nicolaides-Baraitser Syndrome is a rare genetic condition that clinically presents with intellectual disabilities, facial and bone changes, and sparse hair. In Brazil, only one case has been previously reported without genetic confirmation. We present the case of an 8-year-old boy, clinically and genetically diagnosed with Nicolaides-Baraitser Syndrome, who developed autism spectrum disorder characteristics with a formal diagnosis at the age of eight. Diagnosing autism spectrum disorder in patients with intellectual disabilities is a clinical challenge requiring careful evaluation.


Assuntos
Transtorno do Espectro Autista , Hipotricose , Deficiência Intelectual , Masculino , Humanos , Criança , Deficiência Intelectual/complicações , Deficiência Intelectual/diagnóstico , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/diagnóstico , Hipotricose/complicações , Hipotricose/diagnóstico , Hipotricose/genética , Facies
8.
Am J Med Genet A ; 191(9): 2398-2401, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37455568

RESUMO

Congenital cataract is the most common cause of lifelong visual loss in children worldwide, which has significant genotypic and phenotypic heterogeneity. The LSS gene encodes lanosterol synthase (LSS), which acts on the cholesterol biosynthesis pathway by converting (S)-2,3-oxidosqualene to lanosterol. The biallelic pathogenic variants in the LSS gene were found in congenital cataract, Alopecia-intellectual disability syndrome, hypotrichosis simplex, and mutilating palmoplantar keratoderma. In this study, we reported the first congenital nuclear cataract combined with hypotrichosis in a 12-year-old boy with biallelic LSS variants (c.1025T>G; p.I342S and c.1531_1532insT; p.L511Ffs*17) by exome sequencing. Reviewing all reported patients with LSS variants indicated that p.W629 might be a hotspot for hypospadias and p.I342S was associated with congenital cataract. Patients with one or two truncation variants tend to have multisystem symptoms compared with those with two missense variants. These findings deepen the understanding of LSS variants and contribute to the genetic counseling of affected families.


Assuntos
Catarata , Hipotricose , Masculino , Criança , Humanos , Hipotricose/genética , Catarata/patologia , Alopecia/genética , Linhagem
9.
Arch Dermatol Res ; 315(9): 2635-2641, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37517060

RESUMO

Eyebrows are an important feature of facial identity and communications in human beings as well as an important eye defense shield from dust and foreign bodies. To compare the efficacy and safety between 0.01%, 0.03% bimatoprost and minoxidil 2% in gel formulations for eyebrow enhancement. Sixty eligible subjects were female or male, aged 18 years or older with eyebrow hypotrichosis, defined as either a Grade 1 or 2 on the Global Eyebrow Assessment (GEBA) scale. Patients were randomized into 3 groups using block randomization. Group a (20 patients) applied topical 0.03% bimatoprost gel once daily onto both eyebrows, group b (20 patients) applied topical 0.01% bimatoprost gel once daily onto both eyebrows while group c (20 patients) applied topical minoxidil 2% gel once daily onto both eyebrows. A significant improvement in GEBA score was reported in all the three groups after treatment (P ≤ 0.001); however, there was no statistically significant difference between the three groups (P1 = 0.091; P2 = 0.102; P3 = 0.663). Bimatoprost is equally efficacious as minoxidil in enhancement of eyebrows with a more favorable response produced by the 0.03% concentration.


Assuntos
Hipotricose , Minoxidil , Humanos , Masculino , Feminino , Bimatoprost/efeitos adversos , Minoxidil/efeitos adversos , Sobrancelhas , Hipotricose/tratamento farmacológico , Administração Tópica , Resultado do Tratamento , Método Duplo-Cego
12.
Pediatr Dermatol ; 40(5): 960-961, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37029088

RESUMO

To date, more than 15 genes have been linked to syndromic and non-syndromic hypotrichosis, among which the LSS gene encoding lanosterol synthase was recently linked to autosomal recessive isolated hypotrichosis. Here we report the case of a 6-year-old girl born to non-consanguineous Iraqi parents and presenting with sparse lanugo hair since birth on the scalp, eyelashes, and eyebrows. Whole exome sequencing followed by Sanger sequencing allowed the detection of two novel compound heterozygous variants in LSS (p.Ile323Thr and p.Gly600Val). Reporting and investigating further cases with LSS variants might help establishing a better genotype-phenotype correlation.


Assuntos
Hipotricose , Criança , Feminino , Humanos , Alopecia/genética , Sobrancelhas , Cabelo , Hipotricose/diagnóstico , Hipotricose/genética , Linhagem
13.
Pediatr Dermatol ; 40(3): 466-467, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37012647

RESUMO

Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by coarse, wiry, and twisted hair developing during early childhood, and followed by progressive hair loss with puberty. We report a sporadic case of a 4-year-old boy with clinical features suggestive of MUHH, in whom we identified the new pathogenic variant c.67C>T; p.(Gln23*) in U2HR. This finding extends the known spectrum of U2HR variants underlying MUHH and increases genetic information for further genotype-phenotype correlation.


Assuntos
Hipotricose , Fatores de Transcrição , Humanos , Pré-Escolar , Linhagem , Fatores de Transcrição/genética , Hipotricose/diagnóstico , Hipotricose/genética , Alopecia
16.
Pediatr Dermatol ; 40(2): 312-314, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36722625

RESUMO

This study, which aimed to identify distress by sites of hair loss and psychosocial stressors for a pediatric alopecia areata population, enrolled 50 patients (32 females, 18 males, ages 7-17 years) from pediatric dermatology clinics, including a monthly hair disease clinic. Patients completed a 47-question survey. Scalp hair loss was rated as often or always bothersome in 34.7%; eyebrow loss in 24.3%; and eyelash loss in 21.6%, and 6 patients (12%) discontinued a social activity due to hair loss. Referral to behavioral/mental health specialists should be considered to improve psychosocial outcomes.


Assuntos
Alopecia em Áreas , Pestanas , Hipotricose , Masculino , Feminino , Humanos , Criança , Adolescente , Alopecia em Áreas/psicologia , Alopecia , Inquéritos e Questionários
17.
Exp Dermatol ; 32(5): 699-706, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36811447

RESUMO

Mutilating palmoplantar keratoderma (PPK) is a heterogeneous genetic disease that poses enormous challenges to clinical diagnosis and genetic counselling. Lanosterol synthase (LSS) gene encodes LSS involved in the biosynthesis pathway of cholesterol. Biallelic mutations in LSS were found to be related to diseases such as cataracts, hypotrichosis and palmoplantar keratoderma-congenital alopecia syndrome. The aim of this study was to investigate the contribution of the LSS mutation to mutilating PPK in a Chinese patient. The clinical and molecular characteristics of the patient were evaluated. A 38-year-old male patient with mutilating PPK was recruited in this study. We identified biallelic variants in the LSS gene (c.683C > T, p.Thr228Ile and c.779G > A, p.Arg260His). Immunoblotting revealed that the Arg260His mutant showed a significantly reduced expression level while Thr228Ile showed an expression level similar to that of the wild type. Thin layer chromatography revealed that mutant Thr228Ile retained partial enzymatic activity and mutant Arg260His did not show any catalytic activity. Our findings show the correlation between LSS mutations and mutilating PPK.


Assuntos
Hipotricose , Ceratodermia Palmar e Plantar , Masculino , Humanos , Adulto , Alopecia/genética , Hipotricose/genética , Mutação , Ceratodermia Palmar e Plantar/genética , Linhagem
20.
Am J Med Genet A ; 191(5): 1425-1429, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36814386

RESUMO

Variants in genes encoding core components of the spliceosomes are associated with craniofacial syndromes, collectively called craniofacial spliceosomopathies. SNRPE encodes a core component of pre-mRNA processing U-rich small nuclear ribonuclear proteins (UsnRNPs). Heterozygous variants in SNRPE have been reported in six families with isolated hypotrichosis simplex in addition to one case of isolated non syndromic congenital microcephaly. Here, we report a patient with a novel blended phenotype of microcephaly and congenital atrichia with multiple congenital anomalies due to a de novo intronic SNRPE deletion, c.82-28_82-16del, which results in exon skipping. As discussed within, this phenotype, which we propose be named SNRPE-related syndromic microcephaly and hypotrichosis, overlaps other craniofacial splicesosomopathies.


Assuntos
Anormalidades Múltiplas , Hipotricose , Microcefalia , Humanos , Microcefalia/diagnóstico , Microcefalia/genética , Microcefalia/complicações , Fenótipo , Alopecia/complicações , Hipotricose/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Proteínas Centrais de snRNP/genética
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