ABSTRACT
Cartilage-hair hypoplasia syndrome (CHH) is an autosomal recessive disorder frequently linked to n.72A>G (previously known as n.70A>G and n.71A>G), the most common RMRP variant worldwide. More than 130 pathogenic variants in this gene have already been described associated with CHH, and founder alterations were reported in the Finnish and Japanese populations. Our previous study in Brazilian CHH patients showed a high prevalence of n.197C>T variant (former n.195C>T and n.196C>T) when compared to other populations. The aim of this study was to investigate a possible founder effect of the n.197C>T variant in the RMRP gene in a series of CHH Brazilian patients. We have selected four TAG SNPs within chromosome 9 and genotyped the probands and their parents (23 patients previously described and nine novel). A common haplotype to the n.197C>T variant carriers was identified. Patients were also characterized for 46 autosomal Ancestry Informative Markers (AIMs). European ancestry was the most prevalent (58%), followed by African (24%) and Native American (18%). Our results strengthen the hypothesis of a founder effect for the n.197C>T variant in Brazil and indicate that this variant in the RMRP gene originated from a single event on chromosome 9 with a possible European origin.
Subject(s)
Founder Effect , Hair , Hirschsprung Disease , Osteochondrodysplasias , Polymorphism, Single Nucleotide , Humans , Brazil , Hirschsprung Disease/genetics , Male , Osteochondrodysplasias/genetics , Osteochondrodysplasias/congenital , Female , Hair/abnormalities , RNA, Long Noncoding/genetics , Haplotypes , Primary Immunodeficiency Diseases/genetics , Hypotrichosis/genetics , Chromosomes, Human, Pair 9/genetics , ChildABSTRACT
Cartilage hypoplasia syndrome is a primary immunodeficiency disease characterized by short stature, hypoplastic hair and a variable degree of immunodeficiency. Noninfectious cutaneous granulomas represent an uncommon yet well-recognized manifestation within the spectrum of primary immunodeficiency diseases. However, cutaneous granulomas as a manifestation of cartilage-hair hypoplasia syndrome, are extremely rare. We present a case of a middle-aged man with cartilage hypoplasia syndrome featuring cutaneous granulomas, manifesting as chronic, extensive and deep cutaneous ulcers. The patient was treated with anti-TNF-alpha adalimumab with partial improvement. Our case underscores the broad spectrum of clinical manifestations associated with cartilage hypoplasia syndrome and adds new evidence to the potential therapeutic efficacy of anti-TNF-alpha drugs in its treatment.
Subject(s)
Adalimumab , Granuloma , Hair , Osteochondrodysplasias , Primary Immunodeficiency Diseases , Skin Ulcer , Humans , Male , Hair/abnormalities , Primary Immunodeficiency Diseases/complications , Primary Immunodeficiency Diseases/diagnosis , Adalimumab/therapeutic use , Skin Ulcer/etiology , Skin Ulcer/drug therapy , Granuloma/drug therapy , Osteochondrodysplasias/complications , Osteochondrodysplasias/diagnosis , Osteochondrodysplasias/congenital , Hirschsprung Disease/complications , Hirschsprung Disease/diagnosis , Middle Aged , Hypotrichosis/diagnosisABSTRACT
Objetivo: Analisar as produções científicas sobre a efetividade dos inibidores da enzima Janus-Kinase (iJAK) no tratamento da Alopecia Areata. Métodos: Realizou-se uma revisão integrativa de artigos publicados no período de 2015 a 2020, nos idiomas inglês, português e espanhol que contemplassem a temática. A busca na literatura foi realizada por meio dos bancos de dados da Biblioteca Virtual em Saúde e Pubmed, utilizando-se a combinação dos descritores "Alopecia areata" e "tratamento". Resultados: A partir da análise das publicações e considerando os critérios de inclusão pré-estabelecidos, foram selecionados vinte e um artigos, de um total de mil quatrocentos e cinquenta e oito publicações. Considerações Finais: Diante dos resultados, os iJAK são drogas favoráveis e de crescente importância no arsenal do médico dermatologista no tratamento da Alopecia Areata. Seus efeitos colaterais, quando presentes, foram transitórios e sem grande morbidade. Porém, estudos prospectivos e comparativos são necessários para ratificar a eficácia e segurança desses medicamentos a longo prazo no tratamento da Alopecia Areata(AU).
Objective:Analyze scientific productions on the effectiveness of Janus-Kinase (iJAK) enzyme inhibitors in the treatment of Alopecia Areata. Methods:An integrative review of articles published from 2015 to 2020, in English, Portuguese and Spanish, was carried out. The literature was searched through the Virtual Health Library databases and Pubmed, using the combination of the descriptors "Alopecia areata" and "treatment". Results:From the analysis of publications and considering pre-established inclusion criteria, twenty-one articles were selected from a total of one thousand four hundred and fifty-eight publications. Final Considerations:In view of the results, the iJAK are favorable drugs and of growing importance in the arsenal of the dermatologist in the treatment of Alopecia Areata. Their side effects, when present, were transitory and without great morbidity. However, prospective and comparative studies are necessary to confirm the efficacy and long-term safety of these drugs in the treatment of Alopecia Areata(AU).
Subject(s)
Humans , Alopecia Areata/therapy , Janus Kinase Inhibitors/therapeutic use , Alopecia Areata/drug therapy , Hair/abnormalitiesABSTRACT
BACKGROUND: Cartilage-hair hypoplasia is a rare autosomal recessive disease, which is characterized by metaphyseal chondrodysplasia and thin hair. It can be accompanied by immunological disorders in varying degrees. CLINICAL CASE: The case of a 35-month-old girl is described. Since her birth, with growth restriction, she has developed pneumonia eleven times, malabsorption syndrome and aganglionic megacolon, which is why she was diagnosed with cartilage-hair hypoplasia, with expression of non-severe combined immunodeficiency. The decision was to proceed with hematopoietic stem cell transplantation. At the time of this report, the patient was free from infectious processes. CONCLUSION: Cartilage-hair hypoplasia is a condition with diverse clinical features and different degrees of immunodeficiency. As part of the treatment, it is possible to perform haematopoietic stem cell transplantation.
Antecedentes: La hipoplasia cartílago-cabello es una enfermedad autosómica recesiva poco frecuente, caracterizada por condrodisplasia metafisaria y cabello fino. Puede estar acompañada de alteraciones inmunológicas en distintos grados. Caso clínico: Niña de 35 meses de edad, quien desde su nacimiento mostró restricción del crecimiento; desarrolló 11 cuadros de neumonía, síndrome de malabsorción y megacolon agangliónico, por lo que se diagnosticó hipoplasia cartílago-cabello, con expresión de inmunodeficiencia combinada no severa. Se decidió trasplante de células madre hematopoyéticas. Al momento de este informe, la paciente estaba libre de procesos infecciosos. Conclusión: La hipoplasia cartílago-cabello es un padecimiento con rasgos clínicos y distintos grados de inmunodeficiencia. Como parte del tratamiento es posible realizar trasplante de células madre hematopoyéticas.
Subject(s)
Hair/abnormalities , Hirschsprung Disease/diagnosis , Osteochondrodysplasias/congenital , Primary Immunodeficiency Diseases/diagnosis , Child, Preschool , Female , Humans , Osteochondrodysplasias/diagnosis , PhenotypeABSTRACT
O gênero Callithrix possui seis espécies, todas endêmicas do Brasil, com coloração variável dentro do grupo, os animais desse gênero caracterizam-se pela presença de tufos auriculares e uma mancha branca na testa, ausente apenas em Callithrix geoffroyi (É. Geoffroy, 1812). Neste estudo, foram registrados pela primeira vez em Minas Gerais durante os meses de dezembro de 2017, janeiro e fevereiro de 2018 indivíduos de Callithrix penicillata leucísticos. Os animais foram encontrados em uma área verde urbana na Zona da Mata Mineira, onde o isolamento geográfico e a endogamia propiciou o surgimento dessas alterações na coloração, o baixo número de predadores no ambiente urbano contribuiu para a sobrevivência desses primatas nesse local.
The genus Callithrix has six species all endemic to Brazil, the color within the group is variable, the animals of this genus are characterized by the presence of auricular tufts and a white spot on the forehead, absent in Callithrix geoffroyi (Geoffroy, 1812). In this study, individuals of Callithrix penicillata leucistic were registered for the first time in Minas Gerais during the months of December 2017, January and February of 2018. The groups were found in a green area in the Zona da Mata Mineira, where geographic isolation and endogamy led to changes in coloration. The low number of predators in the urban environment contributed to the survival of these primates.
Subject(s)
Animals , Hair/abnormalities , Callithrix/abnormalities , Callithrix/genetics , Pigmentation Disorders/veterinary , Color , Urban AreaABSTRACT
O gênero Callithrix possui seis espécies, todas endêmicas do Brasil, com coloração variável dentro do grupo, os animais desse gênero caracterizam-se pela presença de tufos auriculares e uma mancha branca na testa, ausente apenas em Callithrix geoffroyi (É. Geoffroy, 1812). Neste estudo, foram registrados pela primeira vez em Minas Gerais durante os meses de dezembro de 2017, janeiro e fevereiro de 2018 indivíduos de Callithrix penicillata leucísticos. Os animais foram encontrados em uma área verde urbana na Zona da Mata Mineira, onde o isolamento geográfico e a endogamia propiciou o surgimento dessas alterações na coloração, o baixo número de predadores no ambiente urbano contribuiu para a sobrevivência desses primatas nesse local.(AU)
The genus Callithrix has six species all endemic to Brazil, the color within the group is variable, the animals of this genus are characterized by the presence of auricular tufts and a white spot on the forehead, absent in Callithrix geoffroyi (Geoffroy, 1812). In this study, individuals of Callithrix penicillata leucistic were registered for the first time in Minas Gerais during the months of December 2017, January and February of 2018. The groups were found in a green area in the Zona da Mata Mineira, where geographic isolation and endogamy led to changes in coloration. The low number of predators in the urban environment contributed to the survival of these primates.(AU)
Subject(s)
Animals , Callithrix/abnormalities , Pigmentation Disorders/veterinary , Hair/abnormalities , Callithrix/genetics , Color , Urban AreaABSTRACT
Cartilage-hair hypoplasia syndrome (CHH) is a rare autosomal recessive condition characterized by metaphyseal chondrodysplasia and characteristic hair, together with a myriad of other symptoms, being most common immunodeficiency and gastrointestinal complications. A 15-year-old Mexican male initially diagnosed with Hirschsprung disease and posterior immunodeficiency, presents to our department for genetic and complementary evaluation for suspected CHH. Physical, biochemical, and genetic studies confirmed CHH together with IGF-1 deficiency. For this reason, we propose IGF-1 replacement therapy for its well-known actions on hematopoiesis, immune function and maturation, and metabolism. © 2016 Wiley Periodicals, Inc.
Subject(s)
Genetic Association Studies , Hair/abnormalities , Hirschsprung Disease/diagnosis , Hirschsprung Disease/genetics , Immunologic Deficiency Syndromes/diagnosis , Immunologic Deficiency Syndromes/genetics , Insulin-Like Growth Factor I/genetics , Osteochondrodysplasias/congenital , Phenotype , Adolescent , Biomarkers , Genetic Testing , Genotype , Humans , Insulin-Like Growth Factor I/deficiency , Janus Kinase 2/genetics , Male , Osteochondrodysplasias/diagnosis , Osteochondrodysplasias/genetics , Physical Examination , Polymorphism, Single Nucleotide , Primary Immunodeficiency Diseases , RadiographySubject(s)
Abnormalities, Multiple/diagnosis , Hair/ultrastructure , Trichothiodystrophy Syndromes/diagnosis , Child, Preschool , Developmental Disabilities/diagnosis , Developmental Disabilities/therapy , Female , Guatemala , Hair/abnormalities , Humans , Ichthyosis/drug therapy , Ichthyosis/physiopathology , Monitoring, Physiologic , Photosensitivity Disorders/diagnosis , Photosensitivity Disorders/genetics , Prognosis , Rare Diseases , Trichothiodystrophy Syndromes/therapyABSTRACT
Hair abnormalities in ectodermal dysplasia may be difficult to identify. Among 16 patients with ectodermal dysplasia trichoscopy (hair dermoscopy) revealed predominance of pilosebaceous units with 1 hair (69%), abnormalities of hair shaft pigmentation (gray hair with single dark hairs, 56%), pili torti, trichothiodystrophy, trichorrhexis nodosa, and rarely, cicatricial alopecia.
Subject(s)
Ectodermal Dysplasia/complications , Hair/abnormalities , Hair/pathology , Microscopy , Adolescent , Adult , Alopecia/complications , Child , Female , Humans , Male , Tooth Abnormalities/complications , Young AdultABSTRACT
Introducción: El pelo lanoso (PL) es una rara alteración del tallo piloso que puede ser localizada o generalizada y puede asociarse a alteraciones cutáneas o extracutáneas. Objetivo: Analizar un cuadro clínico de muy escasa frecuencia y enfatizar la importancia del examen físico en el enfrentamiento de ésta. Caso clínico: Preescolar de tres años de edad con pelo fino, claro, corto y rizado. En los antecedentes familiares, destacaba la madre con historia de alopecia desde la infancia y disminución de la velocidad de crecimiento del pelo del cuero cabelludo; cuadro compatible con pelo lanoso generalizado forma hereditaria, sin anomalías asociadas. Conclusiones: El pelo lanoso es una rara anormalidad del tallo piloso. El diagnóstico de certeza se obtiene mediante la microscopía electrónica, sin embargo, el uso de la dermatoscopía constituye una buena herramienta diagnóstica en la práctica diaria. Puede asociarse a anomalías cutáneas y extracutáneas, por lo cual el enfrentamiento clínico y estudio complementario es primordial para descartar anomalías asociadas.
Introduction: Woolly hair (WH) is a rare abnormality of the hair shaft that can be localized or generalized and may be associated with cutaneous or extracutaneous abnormalities. Objective: To analyze a rare clinical case and emphasize the importance of physical examination. Case report: A three year old child with fine, light, short and curly hair is reported. Regarding family history, his mother reports alopecia since childhood and decreased growth rate of the hair of the scalp. The clinical picture is compatible with generalized hereditary woolly hair without associated anomalies. Conclusions: Woolly hair is a rare abnormality of the structure of the scalp hair. Electron microscopy allows the definitive diagnosis, however the use of dermoscopy is a practical and effective diagnostic tool in everyday practice.
Subject(s)
Humans , Male , Child, Preschool , Hair/abnormalities , Hair/pathology , Hair/ultrastructure , Hair Follicle/abnormalities , Hair Follicle/pathology , Hair Follicle/ultrastructure , Microscopy, ElectronABSTRACT
El síndrome hipoplasia cartílago cabello también conocido como condrodisplasia Metafisiaria tipo Mc Kusickes una enfermedad autosómica recesiva que presenta múltiples manifestaciones fenotípicas, tales como talla baja con miembros cortos, alteraciones osteocondrales, extremidades cortas, vello corporal y cabello fino y escaso, piernas relativamente cortas con arqueamiento de los fémures, manos cortas y uñas pequeñas, defectos variables en la inmunidad celular y predisposición a una variedad de neoplasias. El manejo médico de estos pacientes requiere un enfoque multidisciplinario con especialistas en hematología, genética, nutrición y estomatología pediátrica. Se reporta el caso de un paciente con este síndrome al cual fue rehabilitado en el servicio de Odontopediatría del Departamento de Estomatología del Hospital Infantil de México Federico Gómez.
Kusick type is an autosomal recessive disease, has multiple phenotypic manifestations such as hypoplastic hair, short stature, osteochondral abnormalities, short limbs, fine and sparse hair, thin body hair scares relatively short legs with bow femurs, short hands and nails small defects in cellular immunity variables and predisposition to a variety of neoplasm. Management of these patients requires a multidisciplinary approach with specialists in hematology, genetics nutrition and pediatric dentistry. This case report describes phonotypical manifestations of patient with this syndrome who received dental treatment in the Pediatric Dentistry Service at Hospital Infantile de Mexico Federico Gómez .
Subject(s)
Humans , Male , Child , Hair/abnormalities , Cartilage/abnormalities , Exostoses, Multiple HereditaryABSTRACT
OBJECTIVE: To evaluate the severity of iron overload and the success of iron chelation therapy in patients with cartilage-hair hypoplasia (CHH) and hypoplastic anemia, with particular focus on adverse effects of iron chelators. STUDY DESIGN: Four of the 23 presently surviving Finnish patients with CHH under 18 years of age are dependent on regular red blood cell transfusions. Their hospital records were reviewed for history of anemia and chelation therapy. Cumulative iron load from transfusions was calculated. Efficacy of the chelation therapy was evaluated biochemically and by liver iron content assessments. RESULTS: At the introduction of iron chelation, the patients had received on average 99 (37-151) transfusions; the mean cumulative iron overload was 4640 (800-8200) mg, the annual iron accumulation rate 0.35 (0.25-0.41) mg/kg/d, and the mean plasma ferritin was 2896 (1217-6240) µg/L. Liver iron content, determined by biopsy in 3 patients, was on average 20.0 (6.6-30.0) mg/g liver dry weight. All patients, except 1 with Hirschsprung disease, tolerated deferoxamine, deferiprone, and deferasirox therapy well, showing only mild adverse effects typical for the agents. Plasma ferritin levels and liver magnetic resonance imaging T2* of iron overload showed successful chelation. CONCLUSION: Iron chelation is well tolerated in patients with CHH, with possible exception of patients with Hirschsprung disease. Successful chelation will prepare for hematopoietic stem cell transplantation in patients with CHH with persistent transfusion dependency.
Subject(s)
Anemia, Aplastic/diagnosis , Chelating Agents/pharmacology , Hirschsprung Disease/diagnosis , Immunologic Deficiency Syndromes/diagnosis , Osteochondrodysplasias/congenital , Adolescent , Age of Onset , Anemia , Anemia, Aplastic/complications , Child , Child, Preschool , Erythrocyte Transfusion , Female , Finland , Genotype , Hair/abnormalities , Hirschsprung Disease/complications , Humans , Immunologic Deficiency Syndromes/complications , Iron/metabolism , Iron Overload , Liver/metabolism , Male , Osteochondrodysplasias/complications , Osteochondrodysplasias/diagnosis , Primary Immunodeficiency Diseases , Time FactorsABSTRACT
The term woolly hair, or tightly curled hair, refers to a structural anomaly of scalp hair, which can be partial or generalized. Generalized woolly hair variants are rare and can occur in isolation or in association with other cutaneous and extra-cutaneous abnormalities. Thus, it is important to dismiss in these patients the diagnosis of syndromes such as the Noonan syndrome and Cardiofaciocutaneous syndrome, which have high morbidity and mortality rates. We report the clinical case of a 7 year-old boy with generalized woolly hair and keratosis pilaris. After an evaluation of organs and systems, no alteration or characteristics associated with these syndromes were found.
Subject(s)
Hair/abnormalities , Child , Hair/pathology , Humans , MaleABSTRACT
O termo woolly hair, ou cabelo lanoso, refere-se a uma variante anormal de cabelo, que pode ser parcial ou generalizado. As variantes de woolly hair generalizado são raras e podem ocorrer isoladamente ou associadas a outras alterações cutâneas e extracutâneas. Desta forma, nestes doentes, é necessário a exclusão de certos síndromes, como o de Noonan e cardiofaciocutâneo (CFC), que cursam com importante morbilidade e mortalidade. É descrito o caso clínico de uma criança com woolly hair generalizado e queratose pilar, mas que, após avaliação dos vários órgãos e sistemas, não foi encontrada qualquer alteração ou característica associada a esses síndromes.
The term woolly hair, or tightly curled hair, refers to a structural anomaly of scalp hair, which can be partial or generalized. Generalized woolly hair variants are rare and can occur in isolation or in association with other cutaneous and extra-cutaneous abnormalities. Thus, it is important to dismiss in these patients the diagnosis of syndromes such as the Noonan syndrome and Cardiofaciocutaneous syndrome, which have high morbidity and mortality rates. We report the clinical case of a 7 year-old boy with generalized woolly hair and keratosis pilaris. After an evaluation of organs and systems, no alteration or characteristics associated with these syndromes were found.
Subject(s)
Child , Humans , Male , Hair/abnormalities , Hair/pathologyABSTRACT
Pili bifurcati is an extremely rare hair shaft abnormality. We present a case with a scanning electron microscopy analysis.
Subject(s)
Hair/abnormalities , Microscopy, Electron, Scanning , Child, Preschool , Hair/pathology , Humans , Hypotrichosis/etiology , MaleSubject(s)
Hair/abnormalities , Hypopigmentation/diagnosis , Neurocutaneous Syndromes/diagnosis , Chediak-Higashi Syndrome/diagnosis , Diagnosis, Differential , Electroencephalography , Hair/ultrastructure , Hepatopulmonary Syndrome/diagnosis , Humans , Infant , Male , Nervous System Diseases/diagnosis , SyndromeSubject(s)
Humans , Infant , Male , Hair/abnormalities , Hypopigmentation/diagnosis , Neurocutaneous Syndromes/diagnosis , Chediak-Higashi Syndrome/diagnosis , Diagnosis, Differential , Electroencephalography , Hair/ultrastructure , Hepatopulmonary Syndrome/diagnosis , Nervous System Diseases/diagnosis , SyndromeABSTRACT
Three children with cartilage-hair hypoplasia presented with chronic obstructive symptoms and bronchiolar wall thickening on high-resolution computed tomography scanning. In all children, surgical lung biopsy demonstrated diffuse dilated lymphoplasmacytic bronchiolitis. The bronchiolar wall was infiltrated by a lymphocyte sheath with plasma cell differentiation and dispersed secondary follicles. Clarithromycin substantially improved respiratory symptoms and pulmonary function, allowing children to return home.