Oral manifestations of lamellar ichthyosis: A rare case report
نویسندگان
چکیده
منابع مشابه
Ocular manifestations of congenital lamellar ichthyosis.
PURPOSE To describe the ophthalmic manifestations in a series of children with congenital lamellar ichthyosis. These cases presented with varying types of eyelid abnormality associated with the systemic disease. The clinical features and ophthalmic management were studied. METHODS The case histories of three children presenting to the oculoplastic clinic were reviewed. All were diagnosed with...
متن کاملFahr's disease with oral manifestations: report of a rare case.
OBJECTIVE The purpose of this article is to discuss the general and oral findings in a patient with Fahr's disease, an uncommon disorder. CLINICAL PRESENTATION AND INTERVENTION A patient presented with the complaint of partial anodontia, but further clinical and radiographic investigations showed a myriad of findings including stunted growth, osteoporosis and pathological calcifications. Oral...
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Harlequin ichthyosis is the most severe form of congenital ichthyoses with horny (Keratinized) and chapped thick skin throughout the body. In this disease, disruption in keratinization of epidermis results in the impaired barrier function and susceptibility of the neonate to dehydration and infection. In this article, a term male neonate with harlequin ichthyosis, born of a 29-year-old mother, ...
متن کاملHarlequin ichthyosis: A rare case
Harlequin ichthyosis is a very rare condition that affects the skin of newborns. It is associated with poor barrier function of the skin leading to dehydration and leaves newborns prone to infections. It is due to mutations in adenosine triphosphate binding cassette A12 gene transmitted as an autosomal recessive disorder. The prognosis is very poor in these cases. Here, we report one such rare ...
متن کامل[Oral manifestations of achondroplasia, a case report].
Achondroplasia a common form of dwarfism, caused by a single recurrent point mutation in more than 97% of patients, is an autosomal dominant disorder with an incidence of approximately 1/7500. The name of this disease was called Chondrodystrophia foetalis before Parrot in 1878 reported the name of this disease as Achondroplasia, distinguished from other similar diseases. The present case report...
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ژورنال
عنوان ژورنال: Indian Journal of Paediatric Dermatology
سال: 2016
ISSN: 2319-7250
DOI: 10.4103/2319-7250.184428