RESUMEN
Congenital abnormalities of the hair shaft are conditions in most cases linked to chemical, biochemical, and morphological alterations, genetically determined. These alterations may be associated with a larger array of symptoms, as mentioned above, or may occur isolated. The number of genes involved and their penetration are responsible for the mode of transmission, severity, and phenotypic expression of the disease. Furthermore, in some cases, these abnormalities can be considered true pathognomonic markers of disease. Within this disorder, two groups are classically identified: with increased fragility of the hair shaft and without increased fragility. Congenital abnormalities of the hair shaft that present an increased fragility of hair include: Trichorrhexis nodosa congenita, Trichoschisis, Trichorrhexis invaginata, Trichothiodystrophy, Trichoclasia, Pili torti, Monilethrix and Loose anagen syndrome; while the alterations that are not associated with a greater fragility of the hair are: Pili annulati, Longitudinal grooves, Uncombable hair syndrome (Pili trianguli et canaliculi), Woolly hair, Woolly hair with dominant inheritance, Familial recessive woolly hair and Woolly hair nevus.
Asunto(s)
Alopecia/genética , Enfermedades Genéticas Congénitas/complicaciones , Albinismo/genética , Alopecia/congénito , Enfermedades Genéticas Congénitas/genética , Cabello/anomalías , Cabello/ultraestructura , Color del Cabello/genética , Enfermedades del Cabello/genética , Humanos , Hipertricosis/clasificación , Hipertricosis/genética , Hipotricosis/clasificación , Hipotricosis/genética , Piebaldismo/genética , SíndromeRESUMEN
Hair diseases represent a significant portion of cases seen by pediatric dermatologists although hair has always been a secondary aspect in pediatricians and dermatologists training, on the erroneous basis that there is not much information extractable from it. Dermatologists are in the enviable situation of being able to study many disorders with simple diagnostic techniques. The hair is easily accessible to examination but, paradoxically, this approach is often disregarded by non-dermatologist. This paper has been written on the purpose of trying to serve in the diagnostic process of daily practice, and trying to help, for example, to distinguish between certain acquired and some genetically determined hair diseases. We will focus on all the data that can be obtained from our patients' hair and try to help on using the messages given by hair for each patient. Quite often it is extremely hard to distinguish between abnormality and normality in neonatal hair aspects. We will specially focus in the most common physiological changes that may mislead to an incorrect diagnosis. Specific treatment for those hair diseases that do have one, and basic general approach to improve the cosmetic appearance of hair, will be also be discussed for those hair disturbances that do not have a specific treatment.
Asunto(s)
Enfermedades del Cabello , Anomalías Múltiples , Adolescente , Edad de Inicio , Alopecia/clasificación , Alopecia/congénito , Alopecia/diagnóstico , Alopecia/genética , Alopecia/patología , Alopecia/fisiopatología , Niño , Preescolar , Displasia Ectodérmica/epidemiología , Displasia Ectodérmica/genética , Femenino , Cabello/anomalías , Cabello/embriología , Cabello/ultraestructura , Enfermedades del Cabello/congénito , Enfermedades del Cabello/diagnóstico , Enfermedades del Cabello/epidemiología , Enfermedades del Cabello/etiología , Folículo Piloso/embriología , Folículo Piloso/patología , Humanos , Hipotricosis/clasificación , Hipotricosis/congénito , Hipotricosis/genética , Lactante , Masculino , Enfermedades Metabólicas/complicaciones , Periodicidad , Pubertad , Estrés Mecánico , Síndrome , Tricotilomanía/diagnóstico , Tricotilomanía/psicologíaRESUMEN
Ichthyoses comprise a heterogeneous group of Mendelian disorders of cornification (MEDOC) affecting the entire skin and characterized by hyperkeratosis and/or scaling. The genetic basis of almost all ichthyosis forms has been elucidated. In 2009, the worldwide first Ichthyosis Consensus Classification was approved. Its nosology is based on the clinical presentation and reflects recent pathogenic aspects. It distinguishes basically between non-syndromic and syndromic ichthyoses. The term ARCI/autosomal recessive congenital ichthyosis represents the umbrella for harlequin ichthyosis, lamellar ichthyosis and congenital ichthyosiform erythroderma. Ichthyoses due to keratin mutations are referred to as KPI/keratinopathic ichthyosis and include epidermolytic ichthyosis (EI) and superficial epidermolytic ichthyosis (SEI). In Germany the Network for Ichthyoses and Related Keratinization Disorders (NIRK) and the patient organization Selbsthilfe Ichthyose e.V. provide contact points for diagnostic and therapeutic questions.
Asunto(s)
Ictiosis/clasificación , Ictiosis/genética , Terminología como Asunto , Adulto , Niño , Diagnóstico Diferencial , Genes Dominantes/genética , Genes Recesivos/genética , Humanos , Hiperqueratosis Epidermolítica/clasificación , Hiperqueratosis Epidermolítica/diagnóstico , Hiperqueratosis Epidermolítica/genética , Hiperqueratosis Epidermolítica/patología , Hipotricosis/clasificación , Hipotricosis/congénito , Hipotricosis/diagnóstico , Hipotricosis/genética , Hipotricosis/patología , Ictiosis/diagnóstico , Ictiosis/patología , Ictiosis Lamelar/clasificación , Ictiosis Lamelar/diagnóstico , Ictiosis Lamelar/genética , Ictiosis Lamelar/patología , Recién Nacido , Piel/patología , SíndromeRESUMEN
Hereditary hypotrichosis simplex of the scalp is a genotrichosis characterized by a hair defect limited to the scalp in the absence of other ectodermal or systemic abnormalities. Only large pedigrees consistent with autosomal dominant transmission have been described to date. In this article the clinical and scanning electron microscopy findings of a nonfamilial case of congenital scalp hypotrichosis simplex are reported. In some patients the diagnosis of sporadic hypotrichosis simplex of the scalp should be considered after ruling out all other possible causes of congenital and hereditary hypotrichosis.