Restrictive Dermopathy: Report and Review

Khanna, Pawini; Opitz, John M.; Gilbert‐Barness, Enid

doi:10.1080/15513810802077586

Cited by 22 publications

(19 citation statements)

References 18 publications

(26 reference statements)

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“…Dermal adnexae are distorted and poorly developed, and epidermal retia may be flattened. The underlying subcutis is unaffected 13–15 . These findings, when coupled with clinical features, are diagnostic.…”

Section: Congenital Disordersmentioning

confidence: 82%

“…Most infants also show widened cranial sutures, a small pinched nose, low‐set ears, rocker‐bottom feet, microstomia, scaly skin, bone deformities, and respiratory insufficiency. Death occurs early in the neonatal period 13,14 …”

Section: Congenital Disordersmentioning

confidence: 99%

“…Death occurs early in the neonatal period. 13,14 Histopathological examination reveals dermal collagen oriented parallel to the epidermis (Fig. 3c).…”

Section: Restrictive Dermopathymentioning

confidence: 99%

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Unusual and recently described cutaneous atrophic disorders

et al. 2011

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Cutaneous atrophic conditions are typically caused by changes in the dermis or subcutaneous tissue, sometimes consisting of the loss of a single fiber type. Since a significant decrease of subepidermal tissue is necessary for these lesions to be macroscopically atrophic, many conditions may not be appreciated as atrophy in the clinical setting. Clinicians should be familiar with the common or classic disorders causing cutaneous atrophy; however, there are a few new or rarely described atrophic conditions which are more difficult to identify and may not be atrophic clinically. This paper serves to describe the salient clinical and histological features of these new or rare disorders.

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Section: Congenital Disordersmentioning

confidence: 82%

Section: Congenital Disordersmentioning

confidence: 99%

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Unusual and recently described cutaneous atrophic disorders

et al. 2011

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“…While the locally thickened skin with nodules, joint contractures, and some other characteristics overlapped with several connective tissue disorders (Table 1), 1–25 the full spectrum of the phenotypic features appeared inconsistent with any known fibrotic and contractural disease and revealed a previously unrecognized fibrotic disorder.…”

Section: Case Reportmentioning

confidence: 99%

A novel fibrotic disorder associated with increased dermal fibroblast proliferation and downregulation of genes of the microfibrillar network

Szauter

Ordas

Laxer

et al. 2010

British Journal of Dermatology

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Clinical evaluation of a young woman with subcutaneous fibrotic nodules, progressive distal joint contractures and marfanoid stature revealed a previously unrecognized fibrotic disorder characterized by several unique phenotypic features and some features overlapping with known disorders. Mutational analysis of the FBN1 and FBN2 genes excluded Marfan syndrome and congenital contractural arachnodactyly. MMP2 gene sequence analysis excluded multicentric osteolysis, nodulosis and arthropathy. The lack of mutations within the MAGP2 gene also excluded an MAGP2-associated disorder. In order to establish the mechanistic basis for the severe skin pathology noted in this patient, we performed transcriptional profiling of dermal fibroblasts, and candidate gene expression studies in conjunction with immunocytochemistry and cell-based and functional assays. Data from these experiments have further excluded any previously recognized fibrotic disorder and identified a unique pattern of gene expression in this patient consistent with progressive fibrosis. The pathogenic mechanisms included persistent proliferation of dermal fibroblasts in coexistence with a disarray of the microfibrillar network. Collagen accumulation, moreover, could be linked to extensive crosslinking resulting from increased activities of lysyl oxidases (LOX and LOXL), and lack of remodelling due to deficiencies in collagenolytic matrix metalloproteinases. The disorder may represent a novel syndrome in which transforming growth factor-β1-independent dermal fibrosis, unlike known microfibrillar disorders caused by single gene deficiencies, associates with a disarray of the microfibrillar network.

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“…Restrictive dermopathy (OMIM 275210) is a rare lethal genetic disorder that is characterized by congenital tautness of the skin causing fetal akinesia or hypokinesia deformation sequence, characteristic facial features (small mouth, small pinched nose, and micrognathia), bone mineralization defects including thin, dysplastic clavicles, and pulmonary hypoplasia. Patients usually die immediately after birth or may struggle to survive for several weeks (1). Navarro et al (2) recently reported that restrictive dermopathy is either a primary or a secondary laminopathy, caused by dominant de novo mutations in the lamin A gene ( LMNA ) or, more frequently, recessive null mutations in the gene coding the endoprotease ZMPSTE24.…”

mentioning

confidence: 99%