Syndromic (phenotypic) diarrhea in early infancy

Syndromic diarrhea (SD), also known as phenotypic diarrhea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset of severe diarrhea requiring parenteral nutrition (PN). To date, no epidemiological data are available. The estimated prevalence is approximately 1/300,000–400,000 live births in Western Europe. Ethnic origin does not appear to be associated with SD. Infants are born small for gestational age and present with facial dysmorphism including prominent forehead and cheeks, broad nasal root and hypertelorism. Hairs are woolly, easily removed and poorly pigmented. Severe and persistent diarrhea starts within the first 6 months of life (≤ 1 month in most cases) and is accompanied by severe malabsorption leading to early and relentless protein energy malnutrition with failure to thrive. Liver disease affects about half of patients with extensive fibrosis or cirrhosis. There is currently no specific biochemical profile, though a functional T-cell immune deficiency with defective antibody production was reported. Microscopic analysis of the hair show twisted hair (pili torti), aniso- and poilkilotrichosis, and trichorrhexis nodosa. Histopathological analysis of small intestine biopsy shows non-specific villous atrophy with low or no mononuclear cell infiltration of the lamina propria, and no specific histological abnormalities involving the epithelium. The etiology remains unknown. The frequent association of the disorder with parental consanguinity and/or affected siblings suggests a genetic origin with an autosomal recessive mode of transmission. Early management consists of total PN. Some infants have a rather milder phenotype with partial PN dependency or require only enteral feeding. Prognosis of this syndrome is poor, but most patients now survive, and about half of the patients may be weaned from PN at adolescence, but experience failure to thrive and final short stature

Disseminated superficial "actinic" porokeratosis

No abstract available</jats:p

Dermoscopy for the Diagnosis of Porokeratosis

Dermoscopy is a non-invasive diagnostic technique, which is performed by means of different incident light magnification systems using an oil immersion technique. It allows to observe pigmented and vascular structures, from the stratum corneum to the papillary dermis. Dermoscopy is therefore particularly useful in those skin disorders in which the stratum corneum, epidermis and papillary dermis are involved. It is mostly used for the diagnosis of pigmented skin tumours, but its usefulness has also been reported for the in vivo detection of Sarcoptes scabiei. Additionally, this technique may be used for the diagnosis of verrucae vulgaris, psoriasis and other diseases with epidermal involvement. Porokeratoses are a group of disorders of keratinization characterized by annular lesions surrounded by a characteristic keratotic border which corresponds to a typical histopathologic feature, namely, the cornoid lamella. The cornoid lamella is a column of parakeratotic cells placed on a depression of the epidermis where the granular layer is absent. Though nonpathognomonic, the cornoid lamella is the most distinctive feature of the various types of porokeratosis. These varieties include the plaque type originally described by Mibelli (few lesions located on the extremities with a cornoid lamella which could be thick up to 10 mm); the superficial disseminated and superficial actinic forms, the punctate variant of palms and soles and the linear type all sharing similar histopathologic features. We report a case of disseminated superficial porokeratosis and describe the morphologic features that can be evidenced by epiluminescence microscopy examination