منابع مشابه
Alkaptonuria: A case report
Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis). Most common ocular manifestations are bluish-black discoloration of the conjunctiva, cornea, and sclera. In this case report, a 39-year-old Indian male patient with additional ...
متن کاملAlkaptonuria - Case report*
Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid oxidase enzyme having its deposition in various tissues. Male patient, 52 years old, sought medical help complaining about progressive appearance of hyperchromic papules on the lateral edge of the second finger of both hands for 02 years. He al...
متن کاملA Rare Case of Neonatal Hypophosphatasia: A Case Report
Hypophosphatasia is a rare hereditary disorder of bone metabolism.In this article, we presented the case of a male infant with a soft skull and short, deformed limbs at birth, followed by seizures and respiratory distress during admission in the neonatal intensive care unit (NICU). Prenatal ultrasound showed limb hypoplasia, skull hypomineralization, and polyhydramnios. Seizures occurred on day...
متن کاملSchwannoma of Gingiva: a rare case report
Schwannoma is a rare benign neural neoplasm derived from Schwann cells of the peripheral nerve sheath. Schwannoma accounts for 25% to 48% of all neoplasm cases in the head and neck region. Oral Schwannoma is an uncommon soft tissue tumor comprising of 1% of all Schwannomas. Tongue is the most common location for oral schwannoma. Occurrence of gingival schwannoma is very rare and less than 10 ca...
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ژورنال
عنوان ژورنال: Journal of Evidence Based Medicine and Healthcare
سال: 2016
ISSN: 2349-2562
DOI: 10.18410/jebmh/2016/22