ectodermal dysplasia/edema

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Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literature.

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Prijava / prijava

OBJECTIVE To report a case of EEC syndrome with a large nephrogenic cyst detected by prenatal ultrasonography. METHODS Prenatal ultrasonographic detection, genetic counselling, termination of pregnancy, radiographic study, autopsy and ultrastructural study of scalp hair. The literature on EEC

Bilateral panuveitis in a child with hypohidrotic ectodermal dysplasia.

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Prijava / prijava

OBJECTIVE To report a case of bilateral panuveitis in a patient with hypohidrotic ectodermal dysplasia. METHODS Interventional case report. METHODS A 6-year-old African-American boy with hypohidrotic ectodermal dysplasia presented with pain, photophobia, and decreased vision in both

Aplasia cutis congenita and intestinal lymphangiectasia. An unusual association.

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Prijava / prijava

Aplasia cutis congenita (ACC) is a rare skin defect usually localized to the vertex. It has been reported in association with other disorders involving mainly ectodermal and mesodermal structures. We discovered the association of ACC and intestinal lymphangiectasia (IL) in a patient and probably in

[Trichothiodystrophy: progresssive manifestations].

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Prijava / prijava

BACKGROUND Trichothiodystrophy is an autosomal recessive genodermatosis associating congenital dysplasia of the hair and neuroectodermal defects. Clinical expression is variable, although abnormalities are generally noted from birth. We report trichothiodystrophy in two brothers with the same

A spectrum of phenotypical expression OF Neu-Laxova syndrome: Three case reports and a review of the literature.

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Prijava / prijava

Neu-Laxova syndrome is a rare autosomal recessive disorder characterized by severe intra-uterine growth restriction, extreme microcephaly, marked edema with skin restriction, ichthyosis, craniofacial anomalies, limb deformities, and a spectrum of central nervous system malformations. Less than 70

Metastatic melanoma in a patient with Clouston syndrome successfully treated with isolated hyperthermic limb perfusion.

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Prijava / prijava

BACKGROUND Clouston syndrome is an autosomal dominant disorder characterized by nail dystrophy, partial or total alopecia, and hyperkeratosis of the palms and soles. OBJECTIVE Although a variety of unusual cutaneous manifestations have been described, the incidence of melanoma in this population is

Meibomian Gland Absence Related Dry Eye in Ectodysplasin A Mutant Mice.

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Prijava / prijava

Meibomian gland dysfunction is the most frequent cause of evaporative dry eye, yet its underlying pathophysiology is unknown. To gain insight into this pathophysiology, we characterized the time-dependent tear film and ocular surface changes occurring in X-linked anhidrotic-hypohidrotic ectodermal

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