Editorial of Special Issue “Fibrodysplasia Ossificans Progressiva: Studies on Disease Mechanism towards Novel Therapeutic Approaches”

The Special Issue on “Fibrodysplasia Ossificans Progressiva: Studies on Disease Mechanism towards Novel Therapeutic Approaches” has published interesting and useful review articles and original experimental articles on fibrodysplasia ossificans progressiva (FOP), a very rare genetic disorder for which much effort is being devoted to search for a cure. In this editorial, I briefly cite the essential content of all the published articles.

A CASE REPORT OF APLASIA CUTIS CONGENITA TYPE VI: BART'S SYNDROME

Aplasia cutis congenita type VI (Barts syndrome), is a rare genetic disorder characterized by congenital localized absence of skin, formation of blisters (epidermolysisbullosa), and nail abnormalities. In this report, we present a rare case of aplasia cutis congenita type VI (Barts syndrome) in a newborn malebaby with the absence of a skin layer over the anterior right leg, slightly below the patella (kneecap) and around the ankle joint.On the second day, the affected areas developed blisters characterizing epidermolysisbullosa.Laboratory investigationswere all normal. The patients wound was managed conservatively with dressing and topical antibiotic ointments.

Reversal of portal gastropathy with partial internal biliary diversion in a case of progressive familial intrahepatic cholestasis

Progressive intrahepatic cholestasis is a rare, genetic disorder causing bile acid secretion or transport defects. It can result in intrahepatic cholestasis that can progress to end-stage liver disease. Diagnosis is made using a combination of clinical and biochemical approaches. Genetic testing is currently the gold standard for investigation. We report a case of an 18-month-old male child with cholestatic pattern of jaundice from 16 months of life, which was associated with features suggestive of portal gastropathy. Detailed workup led to the diagnosis of progressive intrahepatic cholestasis (type 2). Early diagnosis prevented the need for liver transplant, and the child underwent surgical treatment with partial internal biliary diversion. Portal gastropathy and disease progression dramatically changed with corrective surgery. The patient was symptom-free at 10-week follow-up. Detecting this rare genetic disorder early has very good therapeutic implications from the patient's perspective and their morbidity and mortality profile; if untreated, it has a high propensity to progress to end-stage liver disease. The requirement of surgical interventions and liver transplantation is individualized on a case-to-case basis. An early diagnosis and initiation of treatment can prevent the need for a liver transplant as shown in the present case.

Matthew-Wood Syndrome in Monochorionic, Diamnionic Twins

Matthew-Wood syndrome represents a rare genetic disorder characterized by diaphragmatic defects, pulmonary hypoplasia, micro- or anophthalmia, and cardiac defects. Most cases are lethal with very few infants living beyond a few years of life. Siblings with this diagnosis have been reported but never twins. In this article, we provided a review and discussion of this syndrome following its presentation in monochorionic, diamnionic twin females.

Metachromatic Leukodystrophy (MLD): A Rare Genetic Disorder in child

Metachromatic leukodystrophy is a rare hereditary neurodegenerative disorder that causes fattysubstances to build up in cells, particularly in the brain, spinal cord and peripheral nerves. This iscaused by a deficiency of an enzyme that helps break down lipids called sulfatides. We present acase of a four-year-old boy born of non-consanguinous marriage with complaints of progressive lossof fully developed motor milestones as the inability to walk and sit (regression of achieved motormilestones). The patient was diagnosed with MLD based on whole xome sequencing and dischargedon symptomatic care and physiotherapy to improve the patient's quality of life.