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Dermatosparaxis

Ehlers-Danlos syndrome, dermatosparaxis type


Presentation

  • A 13-year-old patient with dermatosparaxis (Ehlers-Danlos syndrome type VIIC), an autosomal recessive disorder of procollagen-I-N-proteinase, is presented.[ncbi.nlm.nih.gov]
  • We describe the clinical and electronmicroscopic findings in an affected boy who presented at birth with large full-thickness groin fissures, micrognathia, large fontanelles, umbilical hernia, and dental laminal cysts.[ncbi.nlm.nih.gov]
  • Tooth discoloration, dysplastic roots, and tooth pulp obliteration are present in a restricted number of permanent teeth.[ncbi.nlm.nih.gov]
  • The homozygous mutation Q225X was present in 80% of cases subjected to molecular analysis. There is no specific treatment available for this disease, but symptomatic management should be offered in a specialised centre.[orpha.net]
  • CLINICAL RELEVANCE: These findings strongly suggest that the mutation responsible for dermatosparaxis in White Dorper sheep is present in New Zealand.[tandfonline.com]
Easy Bruising
  • The most consistent anomalies during the first years of life are premature rupture of the membranes, extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers.[ncbi.nlm.nih.gov]
  • EDSDERMS is an autosomal recessive form characterized by extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age.[uniprot.org]
  • What Is The Dermatosparaxis Type- EDS Inheritance Autosomal recessive Major Diagnostic criteria Severe skin fragility Sagging, redundant skin Minor Diagnostic criteria Soft doughy skin texture Easy bruising Premature rupture of fetal membranes Large hernias[chronic-illnesses-awareness.weebly.com]
  • The dermatosparaxis type (formerly called EDS type VIIC) is marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin contains numerous folds, as in the cutis laxa syndrome.[orpha.net]
  • It is recommended to avoid heavy exercise and contact sports due to skin fragility and easy bruising.[xpertdox.com]
Short Stature
  • Signs and symptoms: Characteristic signs and symptoms of dermatosparaxis vary but may include soft, saggy, redundant, fragile and doughy skin, hernias , short stature, severe bruising and scarring , delayed closure of the fontanelles, short fingers, mild[xpertdox.com]
  • Other symptoms include a small chin, a blue tinge in the white part of the eyeball (sclera), and short stature. There is no cure for dermatosparaxis type EDS; it is a life-long condition that requires close monitoring.[diseaseinfosearch.org]
  • stature Short fingers Mild to severe hypermobility in the joints To avoid any health complications, people with EDS may do physical therapy, especially if they have hypermobile joints.[theheartysoul.com]
  • Short stature (progressive in childhood); 2. Muscle hypotonia (ranging from severe congenital, to mild later-onset); and 3. Bowing of limbs. There are five general minor criteria, plus gene-specific criteria for B4GALT7 , B3GALT6 , and SLC39A13 .[raredr.com]
  • stature, blue sclerae, thin and hyperelastic skin, muscle atrophy Recessive SLC39A13 Comprehensive EDS Panel Modified from Byers 2000 in The Metabolic & Molecular Bases of Inherited Disease Step 2: Optional Splicing Studies Studies of RNA extracted from[uwcpdx.org]
Short Finger
  • The most consistent anomalies during the first years of life are premature rupture of the membranes, extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers.[ncbi.nlm.nih.gov]
  • Additionally, people with EDS, dermatosparaxis type have problems with bones, such as short fingers and improperly closing fontanels. Other symptoms include swelling around the eyes and hernia.[sharecare.com]
  • EDSDERMS is an autosomal recessive form characterized by extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age.[uniprot.org]
  • fingers Mild to severe hypermobility in the joints To avoid any health complications, people with EDS may do physical therapy, especially if they have hypermobile joints.[theheartysoul.com]
  • Signs and symptoms: Characteristic signs and symptoms of dermatosparaxis vary but may include soft, saggy, redundant, fragile and doughy skin, hernias , short stature, severe bruising and scarring , delayed closure of the fontanelles, short fingers, mild[xpertdox.com]
Inguinal Hernia
  • Umbilical or inguinal hernias have also been described. Dermatosparaxis is extremely rare and few cases only have been reported. The disease is transmitted as an autosomal recessive trait.[orpha.net]
  • Babies born with dermatosparaxis type often have a soft “out-pouching” around the belly button or groin due to an umbilical or inguinal hernia- a condition where a section of the intestines pokes through a weakness in the abdominal muscles inside the[diseaseinfosearch.org]
Sepsis
  • Affected animals have fragile skin, lax joints, and often die prematurely because of sepsis following avulsion of portions of skin.[ncbi.nlm.nih.gov]
Tooth Discoloration
  • The oral findings comprise micrognathia, hypodontia, localized microdontia, opalescent tooth discoloration, root dysplasia, pulp obliteration, severe gingival hyperplasia, frontal open bite, and severe restriction of TMJ mobility.[ncbi.nlm.nih.gov]
  • Tooth discoloration, dysplastic roots, and tooth pulp obliteration are present in a restricted number of permanent teeth.[ncbi.nlm.nih.gov]
Bleeding Gums
  • gums, Gingival hyperkeratosis, Gum enlargement, Hirsutism , Premature rupture of membranes, Recurrent mandibular subluxations, Short phalanx of finger, Decreased body height, Short toes, Spontaneous neonatal pneumothorax, Full lips, Umbilical hernia[xpertdox.com]
  • Oral manifestations Fragile oral mucosae, with easy bruisability and hemorrhagic blisters as well as bleeding gums are typical oral aspects. The teeth are often crowded but otherwise normal.[p-eds.org]
Microdontia
  • The oral findings comprise micrognathia, hypodontia, localized microdontia, opalescent tooth discoloration, root dysplasia, pulp obliteration, severe gingival hyperplasia, frontal open bite, and severe restriction of TMJ mobility.[ncbi.nlm.nih.gov]
  • The permanent dentition shows agenesis and microdontia of several teeth. Tooth discoloration, dysplastic roots, and tooth pulp obliteration are present in a restricted number of permanent teeth.[ncbi.nlm.nih.gov]
Tooth Discoloration
  • The oral findings comprise micrognathia, hypodontia, localized microdontia, opalescent tooth discoloration, root dysplasia, pulp obliteration, severe gingival hyperplasia, frontal open bite, and severe restriction of TMJ mobility.[ncbi.nlm.nih.gov]
  • Tooth discoloration, dysplastic roots, and tooth pulp obliteration are present in a restricted number of permanent teeth.[ncbi.nlm.nih.gov]
Joint Stiffness
  • stiffness, Muscular hypotonia, Mutism (Inability to speak), Osteomalacia (Softening of the bones), Osteopenia, Osteoporosis, Prolonged bleeding time, Rickets, Severe short stature, Thin skin, Depressed nasal bridge, Epicanthus, Femoral hernia and Inguinal[xpertdox.com]
Coxa Vara
  • Other signs and symptoms include Dysphasia, Echolalia , Esophagitis , Excessive wrinkled skin, Aphasia , Avascular necrosis of the capital femoral epiphysis, Coxa valga , Coxa vara , Gastroesophageal reflux , Hiatus hernia , Stomach hernia, Dislocated[xpertdox.com]
Coxa Valga
  • Other signs and symptoms include Dysphasia, Echolalia , Esophagitis , Excessive wrinkled skin, Aphasia , Avascular necrosis of the capital femoral epiphysis, Coxa valga , Coxa vara , Gastroesophageal reflux , Hiatus hernia , Stomach hernia, Dislocated[xpertdox.com]
Hyperkeratosis
  • Orofacial features include micrognathia, a frontal open bite, and gingival hyperplasia with varying degrees of hyperkeratosis.[ncbi.nlm.nih.gov]
  • […] susceptibility, Hypodontia , Joint laxity , Limb undergrowth, Micromelia, Motor delay, Myopia , Premature birth, Downslanted palpebral fissures (Downward slanting of the opening between the eyelids), Drooping lower lip, Frontal open bite, Bleeding gums, Gingival hyperkeratosis[xpertdox.com]
  • Other dermatological features such as hyperkeratosis follicularis; piezogenic papules, which are painful but reversible herniations of adipose lobules through the fascia into the dermis; a lack of striae gravidarum, which represent focal tears in the[p-eds.org]
Hirsutism
  • Limb undergrowth, Micromelia, Motor delay, Myopia , Premature birth, Downslanted palpebral fissures (Downward slanting of the opening between the eyelids), Drooping lower lip, Frontal open bite, Bleeding gums, Gingival hyperkeratosis, Gum enlargement, Hirsutism[xpertdox.com]
  • ., bladder rupture, diaphragmatic rupture, rectal prolapse) Delayed motor development Osteopenia Hirsutism Tooth abnormalities Refractive errors (myopia, astigmatism) Strabismus Minimal criteria suggestive for dEDS: –Major criterion (1): extreme skin[edstoday.org]
Excessive Wrinkled Skin
  • Other signs and symptoms include Dysphasia, Echolalia , Esophagitis , Excessive wrinkled skin, Aphasia , Avascular necrosis of the capital femoral epiphysis, Coxa valga , Coxa vara , Gastroesophageal reflux , Hiatus hernia , Stomach hernia, Dislocated[xpertdox.com]
Blue Sclera
  • He subsequently exhibited marked skin fragility, blue sclerae, joint laxity, increased bruisability, and growth retardation.[ncbi.nlm.nih.gov]
  • The most consistent anomalies during the first years of life are premature rupture of the membranes, extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers.[ncbi.nlm.nih.gov]
  • EDSDERMS is an autosomal recessive form characterized by extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age.[uniprot.org]
Large Fontanel
  • We describe the clinical and electronmicroscopic findings in an affected boy who presented at birth with large full-thickness groin fissures, micrognathia, large fontanelles, umbilical hernia, and dental laminal cysts.[ncbi.nlm.nih.gov]
  • The most consistent anomalies during the first years of life are premature rupture of the membranes, extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers.[ncbi.nlm.nih.gov]
  • EDSDERMS is an autosomal recessive form characterized by extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age.[uniprot.org]
  • Observations: We describe the clinical and electron-microscopic findings in an affected boy who presented at birth with large full-thickness groin fissures, micrognathia, large fontanelles, umbilical hernia, and dental laminal cysts.[jamanetwork.com]
Echolalia
  • Other signs and symptoms include Dysphasia, Echolalia , Esophagitis , Excessive wrinkled skin, Aphasia , Avascular necrosis of the capital femoral epiphysis, Coxa valga , Coxa vara , Gastroesophageal reflux , Hiatus hernia , Stomach hernia, Dislocated[xpertdox.com]

Treatment

  • There is no specific treatment available for this disease, but symptomatic management should be offered in a specialised centre.[orpha.net]
  • Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. read more[oneedsvoice.com]
  • […] saggy, redundant skin, especially on the face; hernias ; and mild to severe joint hypermobility .[8950][9011][9012] EDS, dermatosparaxis type is caused by changes ( mutations ) in the ADAMTS2 gene and is inherited in an autosomal recessive manner.[8949] Treatment[rarediseases.org]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • Take advantage of expanded coverage of small molecule treatment, biologics, biomarkers, epigenetics, biosimilars, and cell-based therapies.[books.google.com]

Prevention

  • These findings distinguish dermatosparaxis from Ehlers-Danlos syndrome type VII, which results from substrate mutations that prevent proteolytic processing of type I procollagen molecules.[ncbi.nlm.nih.gov]
  • Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. read more[oneedsvoice.com]
  • […] face; hernias ; and mild to severe joint hypermobility .[8950][9011][9012] EDS, dermatosparaxis type is caused by changes ( mutations ) in the ADAMTS2 gene and is inherited in an autosomal recessive manner.[8949] Treatment and management is focused on preventing[rarediseases.org]
  • Management : The treatment is focused on relieving associated signs and symptoms and preventing serious complications associated with the disease.[xpertdox.com]
  • As a preventative measure, others may choose to use braces, wheelchairs, or scooters to move around more easily and less painfully.[theheartysoul.com]

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