There is hyperpigmentation present irregularly which is the increased color of the skin which is probably present as patches of hyper-colored skin. Along with this fine hair is seen to be present on the skin in almost all the cases of Acrogeria. [epainassist.com]

Since the glycosaminoglycans and hydroxyproline excreted in the urine were not increased, we speculate that a localized rather than a systemic abnormality may be present in acrogeria. [ncbi.nlm.nih.gov]

present symptoms in 30-79% of the cases: Convex nasal ridge Excessive wrinkled skin Intellectual disability Micrognathia Scoliosis Short foot Small hand Telangiectasia of the skin Occasionally present symptoms in 5-29% of the cases: Skeletal dysplasia [dovemed.com]

• Short Stature

  Other outcomes and observations may include abnormally small hands and feet with unusually prominent veins on the upper trunk (chest), short stature, and, sometimes, abnormally small jaw ( micrognathia ). [medbox.iiab.me]

  Affiliated tissues include skin, and related phenotypes are short stature and lipoatrophy Wikipedia : 77 Metageria is a cutaneous condition characterized by premature... more... [malacards.org]

  Other outcomes and observations may include abnormally small hands and feet with unusually prominent veins on the upper trunk (chest), short stature, and, sometimes, abnormally small jaw (micrognathia). [theinfolist.com]

  We report the case of 4 years old girl, first child of her family (she has a younger brother), who presented the following clinical manifestations: The facial features include micrognathia, alopecia, and prominent scalp veins; a short stature; growth [ashg.org]

  Spondylodysplastic type is associated with short stature, muscle hypotonia and bowing of limbs. Musculocontractural type is characterized by multiple adduction-flexion contractures, clubfoot, characteristic craniofacial features, and skin features. [xpertdox.com]

• Weakness

  CMs can cause headaches, fatigue, muscle weakness in the head and face, difficulty swallowing, dizziness, nausea, impaired co-ordination and Cranial Cervical Instability. [invisibleillnessforum.com]

  These types of mutations cause weakness and fragility to internal organs (GI tract, lungs, liver, spleen, kidneys, bowel/colon, bladder and uterus), arteries and veins that are rich in type III collagen. [edstoday.org]

  Characteristic features include: A striking difference between a person's appearance and his/her real age Greying hair and/or balding, wrinkling and ageing of the face, sunken cheeks, small jaw Small stature (usually less than 1.6m tall), muscle weakness [dermnetnz.org]

  We suggest that Gottron’s acrogeria (that associates defects on type III collagen of blood vessels) could play a facilitating role to develop peliosis hepatis, with a significant weakness in hepatic tissue. [peertechzpublications.com]

  For example, postsurgical complications may include protrusion of certain organs through weak areas in surrounding membranes, muscles, or other tissues (postsurgical hernias). [ehlersdanlos.ca]

• Nausea

  CMs can cause headaches, fatigue, muscle weakness in the head and face, difficulty swallowing, dizziness, nausea, impaired co-ordination and Cranial Cervical Instability. [invisibleillnessforum.com]

• Long Arm

  […] q34.3), or the gene collagen type V, alpha-2 (COL5A2), located on the long arm of chromosome 2 (2q31). [ehlersdanlos.ca]

  Etiology EDS type IV is associated with heterozygous mutations in the COL3A1 gene located on the long arm of Chromosome 2, which encodes type III pro-collagen, a part of vessels and organs structure. [path.upmc.edu]

  Gene location Type III collagen is coded by an unique gene, COL3A1, whose locus is situated on the long arm of chromosome 2, in position 2q24.3-q31 [ 38 ]. [ojrd.biomedcentral.com]

• Small Foot

  foot - Small hand / acromicria Occasional - Chronic skin infection / ulcerations / ulcers / cancrum - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia [csbg.cnb.csic.es]

• Skin Atrophy

  He was in good health except for the prominent skin atrophy over the hands and feet. In the microscopic view of an atrophic skin biopsy specimen, elastic fibers were clumped and fragmented, especially in the upper dermis. [ncbi.nlm.nih.gov]

  […] be a mild, nonprogressive, congenital form of skin atrophy due to the loss of the fatty tissue directly under the skin. other symptoms reported in individual cases include small hands and feet, prominent veins on the chest, small stature, small jaw, [selfdecode.com]

  Other parts of the body (e.g., face, forearms, and lower legs) are variably affected. [1] [2] It is generally considered to be a mild, nonprogressive, congenital form of skin atrophy due to the loss of the fatty tissue directly under the skin. [1] Other [rarediseases.info.nih.gov]

  It is generally considered to be a mild, non progressive skin atrophy due to the loss of the fatty tissue directly under the skin. [jmscr.igmpublication.org]

• Hyperpigmentation

  She had wrinkled 'old-appearing' acral skin, thin skin on the whole integument, grooved tip of nose, mottled hyperpigmentation of fold regions and thickened dystrophic toe nails. [ncbi.nlm.nih.gov]

  Figure 3: Hands had wrinkled skin and hyperpigmentation on the dorsa and fingers, with important loss of subcutaneous tissue that revealed underlying structures. The nails were dystrophic. [peertechzpublications.com]

  Tendon rupture / tendinitis / bursitis / tenosynovitis - Thickened / hypertrophic / fibromatous gingivae - Transient cerebral ischemia / stroke - Umbilical hernia - Uterine rupture Very frequent - Fine hair - Irregular / in bands / reticular skin hyperpigmentation [csbg.cnb.csic.es]

  The signs and symptoms of Acrogeria, Gottron type may include: (Based on the frequency of symptoms observed) Very frequently present symptoms in 80-99% of the cases: Fine hair Irregular hyperpigmentation Joint hyperflexibility Lipoatrophy Thin skin Frequently [dovemed.com]

• Skin Lesion

  More precisely, skin lesions deal with large, fixed, geographic and symmetrical fine scaly recessive erythematous plaques distributed over the dorsal side of distal extremities. Skin lesions can be associated with osteoarticular alterations. [medbox.iiab.me]

  Sometimes X-rays may be done but only to look for bone and cartilage involvements along with the skin lesions, but this isn’t diagnostically valuable to the physician. [epainassist.com]

  [citation needed] Skin lesions can be associated with osteoarticular alterations. [theinfolist.com]

  […] were not present nor were lesions of the skin and nails. [scielo.br]

  Skin lesions may be unilateral or bilateral and symmetrical. The lesions are characteristically arranged in lines, circles or segments of circles in a serpiginous pattern. [drmhijazy.com]

• Eruptions

  […] of acrogeria, a progeroid syndrome. 62 Ho A...Rasmussen JE 3659993 1987 46 Fibroblasts of an acrogeria patient produce normal amounts of type I and III collagen. 62 Bruckner-Tuderman L...Schnyder UW 3582705 1987 47 [Association of a pediatric bullous eruption [malacards.org]

  Bullous eruption of systemic lupus erythematosus. J Am Acad Dermatol 1982; 7: 797-9. Wojnarowska F, Marsden RA, McKee PH et al. A comparative study of benign chronic bullous dermatosis of childhood and linear IgA dermatosis of adults. [drmhijazy.com]

  He had hypodontia, high arched palate, and history of delayed eruption of teeth. He also had skeletal abnormalities [Figure 5], [Figure 6], [Figure 7]. [ijo.in]

• Erythema

  Atrophic facial skin, often facial erythema, regional fat loss, frequent scarlatiniform exanthema, micrognathia, acromicity, possibly infantile skeleton of the distal extremities. Combination with systemic scleroderma possible. [altmeyers.org]

Diagnosis of Acrogeria Since there are no molecular workups that can aid in the diagnoses of Acrogeria, it’s mainly and exclusively just a clinical diagnosis- a proper history including family history and clinical examination. [epainassist.com]

We admitted the patient for a thorough workup and took pediatric and dermatology opinions. [journals.lww.com]

Treatment - Acrogeria- gottron type There is currently no specific treatment available for either of these so-called progeroid syndromes. [checkorphan.org]

The complications of Acrogeria, Gottron type may include: Severe skin abnormalities Difficulty in walking Decreased quality of life Complications may occur with or without treatment, and in some cases, due to treatment also. [dovemed.com]

What are the treatments for Acrogeria- Gottron Type? Since Acrogeria- Gottron Type is a genetic condition, there is no cure. Treatment is based on the type and severity of each patient and is very individualized. [patientworthy.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Prognosis - Acrogeria- gottron type Not supplied. Treatment - Acrogeria- gottron type There is currently no specific treatment available for either of these so-called progeroid syndromes. [checkorphan.org]

Prognosis is a term used to explain the positive progress of a disease- such as how a disease responds to the treatment used. [epainassist.com]

Prognosis of these patients is good as they have no tendency to develop atheroma or diabetes mellitus. We report a case 11 year old female child of acrogeria for its rarity. [jmscr.igmpublication.org]

https://doi.org/10.4055/jkoa.1997.32.5.1380 Copyright © by The Korean Orthopaedic Association Byung Woo Ahn, Sang Youp Lee, Chong Kwan Kim, Chan Hyup Park and Yong Hi Chung Abstract Gottron's acrogeria syndrome is a rare genetic disease of unknown etiology [synapse.koreamed.org]

The etiology of acrogeria is still not well determined. With this in mind, what is most important when making a differential diagnosis with them is based on the prognosis, which appears to be far better in acrogeria. [diki.pl]

[…] have cardiac abnormalities Mitral valve prolapse Aortic root dilation with occasional rupture Scoliosis Pes planus (flatfoot) Molluscoid pseudotumors (calcified hematomas) may be associated with scars Inheritance Autosomal dominant single-gene disorder Etiology [en.wikibooks.org]

However, this concept is still not widely accepted in the medical literature. 9 As these are very rare syndromes, all sharing an aspect of ageing skin similar to progeria, they are also at times called progeroid syndromes. 10 The etiology of acrogeria [scielo.br]

[…] data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant Epidemiological data: (no data available) External references: 1 OMIM reference - No MeSH references [csbg.cnb.csic.es]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.de]

[citation needed] Epidemiology[edit] Acrogeria is extremely rare, with only about 40 cases having been reported in the medical literature, since 1941. [theinfolist.com]

Epidemiology Acrogeria is extremely rare, with only about 40 cases having been reported in the medical literature, since 1941. [medbox.iiab.me]

Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications. Circulation 2009; 119 : 880–890. 17. Janssens K, Vanhoenacker F, Bonduelle M, et al. [nature.com]

How can Acrogeria, Gottron type be Prevented? Currently, Acrogeria, Gottron type may not be preventable, since it is a genetic disorder. [dovemed.com]

Metageria, Acrometageria, Familial acrogeria, Acrogeria, Gottron syndrome Symptoms - Acrogeria- gottron type Causes - Acrogeria- gottron type Prevention - Acrogeria- gottron type Not supplied. Diagnosis - Acrogeria- gottron type Not supplied. [checkorphan.org]

Preventing Acrogeria While there are no known ways to prevent the occurrence of this very rare disease, genetic counseling can be seen to help prevent voluntary transmissions of the disease to the future generations. [epainassist.com]

Each mutation is private for the affected family or individual concerned having the potential for early prenatal diagnosis and prevention. The full text of this article hosted at iucr.org is unavailable due to technical difficulties. [onlinelibrary.wiley.com]

[…] about every moisturizer I can find, and I was a human nutrition major in college, so I take all kinds of supplements (omega-3 fatty acids, D-3, multi-vitamin, extra magnesium, CoQ10, hawthorn, vitamin C complex - most of these are for the heart, to prevent [inspire.com]