RESUMEN
A 5-year-old boy presented with widespread asymptomatic hyperpigmented verrucous plaques since 3 months of age. The lesions were distributed in a linear manner along Blaschko's lines on trunk and extremities and were accentuated in flexures and around joints. There was no history of blistering or redness and no other family member was affected. Ichthyosis hystrix (of Curth and Macklin) and generalized linear/mosaic epidermolytic hyperkeratosis (EHK) were considered in the differential diagnosis. Biopsy from both trunk lesion and lesion on knee revealed characteristic epidermolytic hyperkeratosis, thereby clinching the diagnosis of systematized linear EHK.
Asunto(s)
Hiperqueratosis Epidermolítica/diagnóstico , Preescolar , Dermatitis Seborreica/diagnóstico , Diagnóstico Diferencial , Genes Dominantes , Humanos , Hiperqueratosis Epidermolítica/clasificación , Hiperqueratosis Epidermolítica/genética , Hiperqueratosis Epidermolítica/patología , Ictiosis/diagnóstico , Queratinas/genética , MasculinoRESUMEN
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
BACKGROUND: The clinical condition generalized epidermolytic hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma, is an autosomal dominant disorder and presents as a bullous disease of the newborn followed by an ichthyotic skin disorder throughout life. Clinical epidermolytic hyperkeratosis (cEHK) has characteristic histopathologic findings. Mosaic cEHK, which occurs without a family history, is a sporadic condition that clinically resembles epidermal nevi but demonstrates histopathologic findings similar to the generalized disorder; when a postzygotic mutation involves the germ line, the disease can occur in subsequent generations as generalized cEHK. Ichthyosis bullosa of Siemens (IBS) is similar histopathogically, but is clinically distinct from generalized cEHK, presenting with more superficial bullae. OBJECTIVES: It is well established that the clinical diagnoses generalized cEHK, mosaic cEHK, and IBS have similar histopathologic findings of epidermolysis with hyperkeratosis. We sought (1) to characterize the spectrum of histopathologic features and (2) to assess whether there were histopathologic differences between these clinically distinct disorders. METHODS: One hundred seventeen skin biopsy slides from the National Registry for Ichthyosis and Related Skin Disorders were reviewed, with those reviewers blinded to clinical information. All slides were systematically evaluated for a variety of features, including differences in the pattern of the epidermolysis and hyperkeratosis. Clinical predictions of whether the biopsy specimen was obtained from patients with generalized cEHK, mosaic cEHK, or IBS were made on the basis of histologic pattern of the epidermolysis and hyperkeratosis. RESULTS: Eighteen of the 117 slides revealed features sufficient to make a histologic diagnosis of epidermolytic hyperkeratosis (hEHK). One additional slide, for which a definitive histologic diagnosis was not possible, had features of both hEHK and acantholytic dyskeratosis. Two distinct patterns of the histopathologic changes were observed within the 18 slides diagnostic of hEHK: (1) continuous involvement of the entire horizontal epidermis and (2) focal involvement revealing skip areas of normal-appearing epidermis along the horizontal epidermis. Upon clinical correlation, all 12 of the slides with continuous involvement were from patients with generalized cEHK. One slide was from acral skin and had continuous involvement; this was from a patient with Vorner's palmoplantar keratoderma. Of the remaining 5 slides with focal involvement, two patterns were observed: focal involvement of both granular and spinous layers and focal involvement of only the granular layer. The 3 slides with focal involvement of the granular and spinous layers were from patients with mosaic cEHK. Of the two slides with focal involvement confined to the granular layer, one was from a patient with IBS and the other from a patient with generalized cEHK. LIMITATION: The sample pool is biased by who was enrolled in the Registry and therefore may not represent the full spectrum of the disease. CONCLUSION: The pattern of histologic involvement may be a useful predictor of the clinical phenotype of cEHK.
Asunto(s)
Hiperqueratosis Epidermolítica/patología , Biopsia , Diagnóstico Diferencial , Humanos , Hiperqueratosis Epidermolítica/clasificación , Ictiosis/patología , Piel/patologíaRESUMEN
A sixteen year-old male patient with no history of consanguinity in the family, reported with patchy, thickened lichenified plaques over the whole body. Some areas had normal skin while some were Blaschkoid lesions. The child had delayed milestones along with hypogonadism. Digital contracture with palmoplantar keratoderma was present. Histopathology showed characteristic vacuolar degeneration of the upper epidermis and suprabasilar keratinocytes with hyperkeratosis.
Asunto(s)
Contractura/etiología , Hiperqueratosis Epidermolítica/complicaciones , Piel/patología , Adolescente , Dedos/patología , Humanos , Hiperqueratosis Epidermolítica/clasificación , Hiperqueratosis Epidermolítica/patología , Hipogonadismo/etiología , Queratodermia Palmoplantar/patología , Masculino , MosaicismoRESUMEN
A hiperqueratose epidermolítica é doença rara de herança autossômica dominante. Caracteriza-se inicialmente pela presença de eritema generalizado, descamaçäo e bolhas, e posteriormente com a evoluçäo, hiperqueratose. A histologia é característica, apresentando hiperqueratose associada à epidermólise no nível da camada granulosa e espinhosa, e à ultra-estrutura observa-se agrupamento de tonofilamentos densos. Os autores relatam um caso de hiperqueratose epidermolítica, com aspectos histológicos e ultra-estrutura típicos. De acordo com a revisäo da literatura, algumas características em relaçäo à classificaçäo, manifestaçäo clínica e ao diagnóstico diferencial säo abordados
Asunto(s)
Humanos , Femenino , Lactante , Epidermis/ultraestructura , Hiperqueratosis Epidermolítica/clasificación , Hiperqueratosis Epidermolítica/diagnóstico , Ictiosis/clasificación , Ictiosis/diagnóstico , Trastornos de la Pigmentación/diagnóstico , Diagnóstico Diferencial , Diagnóstico Prenatal/métodos , Enfermedades de la Piel/diagnósticoRESUMEN
Genetic methods (both statistical and laboratory based), along with close clinical scrutiny, have led to the recent discovery that abnormal keratin genes underlie several disorders of cornification (Table 3). The ability to classify diseases based on the specific underlying gene mutation has now become a reality (e.g., the ability to distinguish IBS from EHK and to correlate palmoplantar hyperkeratosis in EHK with keratin 1 mutations vs. the lack of palmoplantar hyperkeratosis with keratin 10 mutations). Understanding how specific keratin mutations cause their associated clinical phenotypes will lead to better appreciation of the function of KIFs in epidermis in normal and disease states.
Asunto(s)
Queratinas/genética , Enfermedades de la Piel/genética , Cromosomas Humanos Par 12/genética , Cromosomas Humanos Par 17/genética , Epidermólisis Ampollosa Simple/genética , Ligamiento Genético , Hamartoma/genética , Humanos , Hiperqueratosis Epidermolítica/clasificación , Hiperqueratosis Epidermolítica/genética , Ictiosis/genética , Queratodermia Palmoplantar/clasificación , Queratodermia Palmoplantar/genética , Mutación/genética , Enfermedades de la Uña/congénito , Enfermedades de la Uña/genéticaRESUMEN
We report a sporadic case of ichthyosis bullosa of Siemens occurring in a Korean boy. In this report, the varied findings of the clinical features in one subject over five years are presented along with an investigation of the ultrastructural alteration. The patient had suffered from blistering, superficial peeling, and dark-grey colored lichenified patches on the extremities since infancy. As he grew older, the lesions were more localized to the elbows, knees, buttock and the dorsal aspects of the hands and feet, and were replaced by yellowish, lichenified plaques. Since the original report of Siemens in 1937, nine families including one sporadic case have been reported in the literature. To our knowledge, this is the second report of sporadic case of IBS.
Asunto(s)
Hiperqueratosis Epidermolítica/patología , Administración Tópica , Corticoesteroides/administración & dosificación , Corticoesteroides/uso terapéutico , Biopsia , Preescolar , Progresión de la Enfermedad , Humanos , Hiperqueratosis Epidermolítica/clasificación , Hiperqueratosis Epidermolítica/tratamiento farmacológico , Hiperqueratosis Epidermolítica/fisiopatología , Masculino , Piel/patologíaRESUMEN
BACKGROUND AND DESIGN: Epidermolytic hyperkeratosis (EHK) is a rare autosomal dominant disorder of cornification. While different clinical presentations of EHK have been described, the distinctions have not been clear. We have examined 52 patients with EHK from 21 families in an effort to define and characterize the specific clinical features of this disorder. RESULTS: We found that several features were useful for separating patients with EHK into clinical groups. The most distinctive characteristic was presence vs absence of severe palmoplantar hyperkeratosis. Twenty-nine patients in six families had this finding and were grouped into "PS types" (those with severe palm/sole hyperkeratosis). The remaining 23 patients (from 15 families) were classified as "NPS types" (those without severe palm/sole hyperkeratosis). We identified three distinct PS types and three distinct NPS types. The classification was always found to be consistent in all affected family members. In those families in which mutations were defined, keratin 1 mutations were identified in the PS types and keratin 10 mutations in the NPS types. CONCLUSIONS: We were able to classify our cohort of 52 patients with EHK from 21 families into distinct types. There was a correlation between presence or absence of severe palm/sole hyperkeratosis and the specific keratin involved.