Cases reported "Skin Abnormalities"

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1/23. alpha1-Antitrypsin deficiency and skin abnormalities.

    A 19-year-old Moroccan male was found to have total absence of serum alpha1-antitrypsin, a major inhibitor of elastase. This patient had chronic obstructive lung disease, hyperextensibility of the skin over the cheeks and wrists, and hyperlaxity of the hand joints. Microscopic sections of the skin revealed a thickened dermis with shortened and rarefied elastic fibers. Ultrastructural study showed collagen fibers with variable and irregular diameters. Elastic fibers were scarce and their relatively poor matrix was surrounded by numberous microfibrils. The outline of the fibers was irregular with deep recesses filled with microfibrils. The ergastoplasm of the fibroblasts was well developed. The differential diagnosis with other connective dystrophies showed the original characteristic of this case. Clinically and histopathologically, the skin abnormalities are probably related to the deficiency in elastase inhibitor.
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2/23. Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?

    Gerodermia osteodysplastica (GO) is a connective tissue disorder characterized by premature aging, wrinkled, and lax skin with reduced elasticity which is more marked on the dorsum of the hands and feet associated with hyperextensible joints and osteoporosis. The wrinkly skin syndrome (WSS) is characterized by wrinkled skin over the dorsum of the hands, feet, and abdomen; hyperextensible joints, particularly of the hands; intrauterine growth retardation; postnatal failure to thrive; and mental and developmental delay. We report on five children from two consanguineous Arab families with features overlapping both GO and WSS. All five children had similar dysmorphic facial features consisting of broad and prominent forehead, hypotelorism with epicanthal folds, prominent bulbous nose, flat malar region, and large protruding ears. All had wrinkling of the skin more marked on the dorsum of the hands, feet, and abdomen; hyperextensibility of the joints, particularly of the hands; and aged appearance. Intrauterine growth retardation, subsequent failure to thrive, developmental delay, and variable degree of osteoporosis was also present in all of them. The older three children developed progressive prognathism. We suggest that GO and WSS could represent variable manifestation of the same disorder.
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3/23. Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome?

    We report the case of a girl who has joint and skin laxity with atrophic scarring, and was diagnosed at birth with a Dandy-Walker malformation. She subsequently developed joint contractures, hydrocephalus and syringomyelia. This case shows some similarities to ehlers-danlos syndrome type VI, but with no evidence of lysyl hydroxylase deficiency or ocular fragility. It is likely that she represents a distinct and recognizable syndrome. There was parental consanguinity and a subsequent pregnancy resulted in a similarly affected fetus, suggesting autosomal recessive inheritance.
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4/23. association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome.

    macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) constitutes a distinct entity characterized by prenatal overgrowth, macrosomia, hemihypertrophy, macrocephaly, nonobstructive hydrocephaly, frontal bossing, hypotonia, developmental delay, generalized or facial capillary malformation with upper philtral nevus flammeus and cutis marmorata, joint hypermobility, loose skin, toe syndactyly, and postaxial polydactyly. All but one of the cases reported previously had benign clinical courses without showing an increased risk of early infant death. We describe three additional cases with poor clinical outcomes including severe postnatal growth failure, intractable cardiac arrhythmia in two cases, and sudden infant death in two cases. Arrhythmia has not been described previously as one of the symptoms of M-CMCT. patients with M-CMTC associated with severe postnatal growth failure and arrhythmia may constitute a distinct clinical subtype of M-CMTC with an increased risk of life-threatening episodes or sudden death. Recognizing this clinical subtype of M-CMTC is important to prevent these serious potential complications.
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5/23. Case of Myhre syndrome with autism and peculiar skin histological findings.

    Myhre syndrome (MS) (MIM 139210) is a rare disorder characterized by short stature, mental retardation, muscular build, blepharophimosis, and decreased joint mobility. We report on a 14-year-old boy with clinical findings consistent with a diagnosis of Myhre syndrome, associated with autism and peculiar skin histological findings.
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6/23. patellar dislocation in Kabuki syndrome.

    We describe four individuals (two females and two males) with Kabuki syndrome and recurrent dislocation of the patella. The age of diagnosis of patellar dislocation ranged from 11 to 23 years. One individual underwent excision of the free fragment and transfer of the tibial tuberosity with good outcome. Two required patellar brace for instability. Characteristics of individuals with the syndrome at a high risk of patellar dislocation include female, adolescence or young adulthood, joint laxity, and obesity.
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7/23. 18q-syndrome and ectodermal dysplasia syndrome: description of a child and his family.

    The 18q- syndrome [MIM #601808] is a terminal deletion of the long arm of chromosome 18. The most common deletion extends from region q21 to qter. We report here a nine-year-old boy possessing a simple 18q- deletion who had abnormalities of the brain, skull, face, tooth, hair, bone, and skin, plus joint laxity, tongue palsy, subtle sensoneural deafness, mental and speech delay, attention deficit hyperactivity disorder (ADHD), tic, and restless legs syndromes. His karyotype was 46, XY, del (18)(q21.31-qter). The size of the deletion was approximately 45 cM. Most of these abnormalities were not explained by the 18q- deletion. The family pedigree suggested the presence of a subtle involvement of ectodermal and/or mesodermal structures. Karyotypes of the other family members were normal.
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8/23. Restrictive dermopathy in two sisters.

    Restrictive dermopathy (RD) is a very rare and lethal congenital skin disease. It is inherited by an autosomal recessive pattern with characteristic features of abnormally rigid skin, generalized joint contractures (arthrogryposis), and dysmorphic facies consisting of downward slanting eyes, a small pinched nose, low-set ears, a fixed open mouth in the O-position, and micrognathia. We report on 2 siblings from consecutive pregnancies affected with RD. They died of possible sepsis and respiratory insufficiency at 6 and 8 days after birth, respectively. This kind of stiff skin defect may lead to a fetal akinesia/hypokinesia deformation sequence, which causes the facial abnormalities of RD, as presented in these cases.
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9/23. A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features.

    macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is characterized by macrocephaly, cutis marmorata, capillary malformations, toe syndactily, joint laxity and pre-natal overgrowth. Cerebral abnormalities might also be seen. We reported cerebral magnetic resonance imaging (MRI) findings of a case with M-CMTC, who had giant atrial septal aneurysm and atrial septal defect. Cerebral alterations determined by MRI were bilateral prominent lateral ventricles, bilateral cortical dysplasia, cavum septi pellucidum cyst and calvarial hemangioma. At 17th day of his life he suddenly developed cardiorespiratory arrest and died.
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10/23. Myocardial storage of chondroitin sulfate-containing moieties in costello syndrome patients with severe hypertrophic cardiomyopathy.

    costello syndrome is a distinctive multiple congenital anomaly syndrome, characterized by loose soft skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features, skeletal abnormalities, cardiac abnormalities (cardiovascular malformation (CVM), hypertrophic cardiomyopathy, tachycardia), predisposition to malignancy, developmental delays, and mental retardation. Previous studies with cultured fibroblasts from individuals with costello syndrome demonstrate excessive accumulation of chondroitin sulfate-bearing proteoglycans, associated with both impaired formation of elastic fibers and an unusually high rate of cellular proliferation. Despite multiple clinical reports of cardiac abnormalities, there has been only one previously published report describing post-mortem findings in hearts from costello syndrome patients. Here we provide a detailed description of the post-mortem findings of the hearts of three children with costello syndrome. Routine histological examination and results of targeted histochemical and immunohistochemical studies revealed that in addition to cardiomyocyte hypertrophy, these hearts also demonstrated massive pericellular and intracellular accumulation of chondroitin sulfate-bearing proteoglycans and a marked reduction of elastic fibers. Normal stroma was replaced by multifocal collagenous fibrosis. Most peculiar was the finding that the bulk of the chondroitin sulfate accumulated in these costello syndrome hearts is a chondroitin-6-sulfate. In contrast, deposition of chondroitin-4 sulfate was below the level detected in normal hearts. We propose that an imbalance in sulfation of chondroitin sulfate molecules and subsequent accumulation of chondroitin-6-sulfate in cardiomyocytes contribute to the development of the hypertrophic cardiomyopathy of costello syndrome.
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