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International Birth Defects Information Systems
Scleroderma (in children)

International Birth Defects Information Systems

Scleroderma (in children)
Perry Romberg Syndrome

Topics: | CENPC1 | CENPC2 | Centromeric Protein C1 | Centromeric Protein C1 Pseudogene | Coup De Sabre | Crest Syndrome | Crst Syndrome | Hemifacial Atrophy Progressive | HFA | Increased Chromosomal breakage rate of Scleroderma | Localized Scleroderma | Morphea | Morphoea | PCNT | Pericentrin | Progressive Hemifacial Atrophy | Raynaud's | Romberg Perry | Scleroderma (in children) | Systemic Sclerosis r |

Related Topics: | Peters Plus S. | Werner S. |

Service Related: | Support Groups | Professional Associations | Key Information Sources |

Languages: | English | Spanish |

Scleroderma (in Children)
Thomas J.A. Lehman MD, Scleroderma Foundation in Watsonville, California
Visitor Comments [Support Groups]
Scleroderma in childhood may occur as localized morphea, linear scleroderma, progressive systemic sclerosis or the CREST syndrome ... begin as areas of either increased or decreased pigmentation which are reddish at first and then become progressively hardened and "shrunken" ... no intervention is warrented unless the area of involvement overlies a joint ... progressive tightening of the skin and underlying tissues may produce flexion contractures ... Sclerodermatomyositis is an infrequent, but well - described entity ... characteristic changes of linear scleroderma accompanied by a dermatomyositis - like rash, weakness, and muscle inflammation ... Progressive systemic sclerosis and CREST syndrome are potentially severe, life threatening illnesses in children ...

Localized Scleroderma
Pediatric Database, 2007
A multiorgan rheumatologic disease characterized by fibrosis limited to the skin, subcutaneous tissue, and muscle and rarely involving the visera ... more common in childhood ... Types - Morphea - Linear - one or more oval or round circumscribed indurations that become hard and white - found in skin anywhere on trunk or extremities - characteristic violet border found early in disease ... Linear - one or more linear streaks on scalp, face, extremities - found in skin but involve underlying subcutaneous tissue, tendons, muscle, and bone - contractions & deformities - scleroderma en coup de sabre - lesions of face or scalp - associated with significant local growth arrest - atrophy of the skin, subcutaneous tissue, and bone ... Morphea - penicillamine is drug of choice - dilantin ...

Hemifacial Atrophy (Progressive)
Victor A. McKusick, OMIM, Johns Hopkins University, November 4, 2005
Visitor Comments [for Professionals mainly]
... Slowly progressive hemifacial soft tissue atrophy ... Localized facial bony depressions ... Contralateral Jacksonian epilepsy ... Trigeminal neuralgia ... Hyperpigmentation ... Vitiligo ... Hair blanching ... Alopecia ... Hemiatrophy of tongue ... Delayed dental eruption ... Dental malocclusion ... Enophthalmos ... Refractive error ... Heterochromia iridis ... Autosomal dominant vs. a form of localized scleroderma ... This syndrome, described in the last century by Perry (1825) and Henoch and Romberg (1846), consists of slowly progressive atrophy of the soft tissues of essentially half the face, accompanied usually by contralateral Jacksonia epilepsy, trigminal neuralgia, and changes in the eyes and hair (Walsh, 1939; Wartenberg, 1945) Evidence of a mendelian basis is lacking ... The presence of antinuclear antibodies in his serum suggested that the Perry - Romberg syndrome may be a form of localized scleroderma ... Larner and Bennison (1993) reported discordance in a pair of monozygotic twins ...

Morphoea ... (Coup de Sabre)
DermNet NZ, November 14, 2007
Visitor Comments [Illustrated]
... In nearly all cases the cause of morphoea is unknown. It can however sometimes follow: - Localised injury - Pregnancy - Measles and other viral infections - Autoimmune diseases ... Clinical features ... Plaques - the most common pattern of morphoea ... scar - like oval patches of skin from 1 - 2 cm or more in diameter ... Old lesions ... shiny and hairless. The patches do not sweat ... Linear scleroderma - most often found on the limb of a child ... may be associated with underlying contractures ... En coup de sabre - deep - seated form of linear scleroderma a ffecting the scalp and temple like a sabre cut. The hair is lost permanently and the underlying skull bone may shrink ... Generalized morphoea - very rare form ... Pansclerotic disabling morphoea - affects children and results in extensive hardening of skin ... Atrophoderma of Pierina and Pasini - form of morphoea in which severe loss of subcutaneous ...

The Romberg's Connection
The Romberg's Connection, November 12, 2007
Visitor Comments [Support Groups]
... is an international support group made up of over 200 individuals and families whose lives are affected by Rombergs Syndrome ...

Raynaud's and Scleroderma Association
Raynaud's and Scleroderma Association, 2005
The Raynaud's Association was founded in 1982 ... The Association's aims are to: create a greater awareness of Raynaud's and scleroderma ...

Scleroderma, Familial Progressive
Victor A. McKusick, OMIM, Johns Hopkins University, October 31, 2007
Visitor Comments [for Professionals mainly]
Winterbauer (1964) defined and named the CRST syndrome (calcinosis, Raynaud syndrome, sclerodactyly, telangiectasia), a variant of scleroderma, when he was a Johns Hopkins medical student. (The CRST syndrome simulates hereditary telangiectasia; see ... The initialism CRST was expanded to the acronym CREST by Shulman's group ... who added esophageal involvement to the cardinal manifestations ... Sheldon et al. (1981) described a kindred in which 3 sibs had scleroderma and 2 others had Raynaud phenomenon ...

Centromeric Protein C1
Victor A. McKusick, OMIM, Johns Hopkins University, October 3, 2006
Visitor Comments [for Professionals mainly]
Gene Map Locus: 4112-q13.3 ... gene that encodes the 140-kD antigen ... Using anticentromere antibodies from 39 individuals with Raynaud syndrome or disease ... recognized 3 antigens: centromere protein A (CENPA; ... ) CENPB with molecular ... The stability of dicentric chromosomes in humans seems to result from inactivation of one centromere, yielding a functionally monocentric chromosome. Such chromosomes display a single primary constriction, assumed to be the active centromere ...

Pericentrin (PCNT)
Victor A. McKusick, OMIM, Johns Hopkins University, March 16, 2005
Visitor Comments [for Professionals mainly]
Gene Map Locus: 21q22.3 ... Doxsey et al. (1994) used antisera from scleroderma patients that react widely with centrosomes in plants and animals to isolate cDNAs encoding a novel centrosomal protein ...

Esclerodermia lineal
Antonio Iglesias Gamarra et al., Asociación Colombiana de Reumatología, REVISTA COLOMBIANA DE REUMATOLOGÍA VOL. 12 No. 3, Septiembre 2005, pp. 208-222
Visitor Comments [Illustrated] [Spanish]
Introducción: la esclerodermia lineal forma parte de la esclerodermia localizada y se caracteriza por una lesión lineal indurada y pigmentada en diferentes partes del cuerpo, más frecuente en miembros inferiores, pero también observada en región frontoparietal, brazos y otras localizaciones. En este trabajo definimos los diferentes fenotipos cutáneos de la esclerodermia lineal y analizamos su evolución a largo plazo ... Palabras Clave: esclerodermia, esclerodermia lineal, fenotipos cutáneos ...


Last Updated: 2008/1/07


American Medical Association