RESUMO
A 43-year-old Chinese man presented with generalized hypohidrosis, which he had had since birth, without obvious abnormalities of other skin appendages except a sparse beard and axillary hairs. The sweat test revealed localized sweating on the face, axillae and palms. Histopathologic examination showed that the sweat glands were absent in the forearm and thigh, but some eccrine and apocrine sweat glands were present in the right axilla. S-100 was expressed in the nerve terminals surrounding the acini and ducts of the eccrine sweat glands, while PGP9.5 was positive in the acini of apocrine glands and the nerve terminals surrounding the eccrine glands in the axilla. To our knowledge, this is the first case of congenital idiopathic hypohidrosis in China.
Assuntos
Glândulas Apócrinas/anormalidades , Glândulas Écrinas/anormalidades , Hipo-Hidrose/congênito , Hipo-Hidrose/patologia , Adulto , Glândulas Apócrinas/patologia , Axila , China , Glândulas Écrinas/patologia , Humanos , Imuno-Histoquímica , MasculinoRESUMO
AbstractA 43-year-old Chinese man presented with generalized hypohidrosis, which he had had since birth, without obvious abnormalities of other skin appendages except a sparse beard and axillary hairs. The sweat test revealed localized sweating on the face, axillae and palms. Histopathologic examination showed that the sweat glands were absent in the forearm and thigh, but some eccrine and apocrine sweat glands were present in the right axilla. S-100 was expressed in the nerve terminals surrounding the acini and ducts of the eccrine sweat glands, while PGP9.5 was positive in the acini of apocrine glands and the nerve terminals surrounding the eccrine glands in the axilla. To our knowledge, this is the first case of congenital idiopathic hypohidrosis in China.
Assuntos
Adulto , Humanos , Masculino , Glândulas Apócrinas/anormalidades , Glândulas Écrinas/anormalidades , Hipo-Hidrose/congênito , Hipo-Hidrose/patologia , Axila , Glândulas Apócrinas/patologia , China , Glândulas Écrinas/patologia , Imuno-HistoquímicaRESUMO
La miliaria es un trastorno común de las glándulas sudoríparas ecrinas que se caracteriza clínicamente por la aparición de vesículas resultantes de la obstrucción del conducto glandular. La forma congénita es extremadamente infrecuente y existen sólo 4 casos publicados en la literatura. Presentamos a continuación dos pacientes evaluados en nuestro servicio con diagnóstico de miliaria cristalina congénita
Congenital miliaria crystallina is a common disorder of the eccrine sweat glands clinically characterized by the presence of vesicles resulting from the glandular duct obstruction. The congenital form of miliaria is extremely rare, with only 4 cases reported in the literature. We herein report 2 cases of congenital miliaria crystallina evaluated at our department
Assuntos
Humanos , Masculino , Recém-Nascido , Doenças das Glândulas Sudoríparas/congênito , Glândulas Écrinas/anormalidades , Miliária , Anormalidades CongênitasRESUMO
Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia, the most common form of ectodermal dysplasia. Males show a severe form of this disease, while females often manifest mild to moderate symptoms. We identified a missense mutation (c.463C>T) in the EDA gene in a Jordanian family, using direct DNA sequencing. This mutation leads to an amino acid change of arginine to cysteine in the extracellular domain of ectodysplasin-A, a protein encoded by the EDA gene. The phenotype of a severely affected 11-year-old boy with this mutation included heat intolerance, sparse hair (hypotrichosis), absence of 17 teeth (oligodontia), speech problems, and damaged eccrine glands, resulting in reduced sweating (anhidrosis). Both the mother (40 years old) and the sister (10 years old) were carriers with mild to moderate symptoms of this disease, while the father was healthy. This detailed description of the phenotype caused by this missense mutation could be useful for prenatal diagnosis.
Assuntos
Displasia Ectodérmica Anidrótica Tipo 1/genética , Ectodisplasinas/genética , Mutação de Sentido Incorreto , Distúrbios da Fala/genética , Adulto , Criança , Glândulas Écrinas/anormalidades , Saúde da Família , Feminino , Humanos , Hipo-Hidrose/genética , Hipotricose/genética , Jordânia , Masculino , Análise de Sequência de DNA , Anormalidades Dentárias/genéticaRESUMO
La granulosis rubra nasi es una dermatosis inflamatoria eritémato-papular pruriginosa que compromete las glándulas ecrinas de la nariz, mejilla y barbilla, de etiología incierta, poco frecuente, de curso crónico, y naturaleza benigna; caracterizado clínicamente por la presencia de pápulas eritematosas e hiperhidrosis persistente en la punta de nariz. Se presenta con mayor frecuencia en la niñez temprana y es de resolución espontánea en la adolescencia. El tratamiento es sintomático y cosmético, sin embargo el uso de corticoides tópicos de baja potencia producen una mejoría. Presentamos el caso de un paciente varón de 10 años de edad con hiperhidrosis y lesiones papulares eritematosas localizadas en la dermis e infiltrado inflamatorio alrededor de los ductos sudoríparos ecrinos: Se instituyó tratamiento con corticoides no fluorados, observándose mejoría. Se debe considerar a la granulosis rubra nasi como diagnóstico diferencial de las lesiones pápulo-eritematosas de la cara sobre todo en pacientes de edad pediátrica.
Assuntos
Humanos , Masculino , Criança , Dermatoses Faciais , Glândulas Écrinas/anormalidadesRESUMO
El antígeno carcionoembrionario (CEA) es una glicoproteína de composición heterogénea, normalmente detectada en las células epiteliales fetales y en gran variedad de carcinomas, particularmente en adenocarcinomas del tuvo digestivo (incluyendo páncreas). Por esta característica es referido como un antígeno oncofetal. También se ha observado en la piel en las glándulas apocrinas y ecrinas y en sus tumores, en la Enfermedad de Paget mamaria y extramamaria y en la mayoría de adenocarcinomas metastásicos. En el presente trabajo se hace una revisión de usos en dermopatología
Assuntos
Humanos , Masculino , Feminino , Antígeno Carcinoembrionário/uso terapêutico , Glândulas Apócrinas/anormalidades , Glândulas Écrinas/anormalidades , Neoplasias/diagnóstico , Doença de Paget Extramamária/diagnóstico , Doença de Paget Mamária/diagnóstico , Dermatopatias/diagnósticoRESUMO
Concentration measurements in sweat-glands and their surroundings have been carried out, using a micro-cryoscopic method. The following preliminary conclusion could be drawn. (1) The total osmolar concentration of the extracellular fluid of the connective tissue is higher than that of the blood plasma.(2)The concentration in the connective tissue decreases towards the direction of the skin surface. This is also true for the sweat present in the duct. (3) The concentration in the coil in healthy subjects as well as in patients suffering from mucoviscoidosis is equal to the plasma concentration. (4) From these results it is evident that the duct does not play merely a passive role in the sweatn production. (5) The disturbances in the electrolyte concentration of the sweat of mucoviscoidosis patients must be localised in the duct of the gland