Phakomatosis pigmentovascularis (PPV) is a rare cutaneous disorder characterized by combination of capillary malformation and other pigmented naevi. Four types and two subtypes have been described where subtype ‘a’ present only with cutaneous form and subtype ‘b’ also with systemic association like in Sturge-Weber syndrome or Klippel-Trenaunay syndrome. Hereby, we report a case where our patient presented with port-wine stain, Nevus of Ota, Sturge-Weber syndrome, and Klippel-Trenaunay syndrome; which has made it a rare combination.
Background:Congenital ichthyoses comprises various specific genetic diseases and can range from mild to very severe presentation. Furthermore, these may be associated with various syndromes. There is scanty data regarding the demographic profile and clinical features of patients with congenital ichthyosis in India.Aims and Objectives:The aim is to evaluate the epidemiology and clinical characteristics of various types of congenital ichthyoses.Materials and Methods:The study was conducted for 1 year from April 2013 to March 2014. Patients were evaluated for epidemiological profile and clinical features.Results:During the study of 1 year, 106 patients of congenital ichthyoses were identified. The most common of the various ichthyoses was ichthyosis vulgaris, followed by lamellar ichthyosis, X-linked recessive ichthyosis. One case of Netherton syndrome and one of ichthyosis hystrix were also identified.Conclusion:Various types of congenital ichthyoses present with different clinical features which range from mild to severe. These present with significant psychological stress to both patients and their families. Furthermore, all these diseases have significant implications of transmission to their offspring.
family members including his three younger siblings had similar lesions. The child was otherwise normal except for complaints of occasional low-grade fever. On examination, numerous close set xanthomatous lesions chiefly comprising of flat-topped papules of various sizes, the largest being 7 mm in diameter were seen on face, trunk, back, upper arms, axillae and groin creases. Eyelids were spared, so was the scalp. Few lesions showed central umbilication. The papules were discrete with no tendency to coalesce. There was a line of demarcation just above the buttocks, below which the lesions were conspicuously absent (except a few in popliteal fossae). The papules were firm on palpation and were nontender. Hair, nails, oral and genital mucosa were normal. General examination revealed no abnormality. There was no lymphadenopathy. A differential diagnosis of benign cephalic histiocytosis (BCH) and xanthoma disseminatum were considered. All hematological investigations including the serum lipid profile were normal. Ultrasonography abdomen-pelvis and chest X-ray revealed no abnormalities. Histopathological examination of one of the papules showed a thin epidermis, dense histiocytic infiltrate in the upper and mid dermis with numerous foam cells and a moderate numbers of foamy multinucleate Touton giant cells [ Figure 2a]. The lower epidermis showed mild infiltrate with hyalinization of collagen. Immunohistochemistry showed positive staining for CD68 and was negative for CD1a [ Figure 2b].
ABSTRACTPapular xanthoma (PX) is a form of Non-Langerhan's cell histiocytosis, which is rare and primarily affects adults. Rarely cases have been reported in children as well though the presentation in both the age groups vary considerably. We present a case of PX in a 4½-year-old male child who presented with multiple asymptomatic skin-colored papular lesions on the body.
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