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mandibuloacral dysplasia type B lipodystrophy
Description
Mandibuloacral Dysplasia Type B Lipodystrophy: A Rare Autosomal Recessive Disorder
Mandibuloacral dysplasia with type B lipodystrophy (MADB) is a rare autosomal recessive disorder characterized by postnatal growth retardation, brittle or absent hair, mottled and atrophic skin, generalized lipodystrophy, insulin resistance, teeth abnormalities, mandibular and clavicular hypoplasia, acroosteolysis, delayed cranial suture closure, joint contractures, and a progeroid appearance [1][2].
Key Features:
- Generalized loss of subcutaneous fat involving the face, trunk, and extremities [7]
- Mandibular and clavicular hypoplasia
- Acroosteolysis (shortening or fusion of bones in the hands and feet)
- Delayed cranial suture closure
- Joint contractures
- Progeroid appearance (premature aging)
Age of Onset: MADB typically begins in infancy, with some cases presenting at birth [8].
Inheritance Pattern: MADB is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.
References:
[1] Context result 1 [2] Context result 4 [3] Context result 5 [7] Context result 7
Additional Characteristics
- joint contractures
- postnatal growth retardation
- brittle or absent hair
- mottled and atrophic skin
- generalized lipodystrophy
- insulin resistance
- teeth abnormalities
- mandibular and clavicular hypoplasia
- acroosteolysis
- delayed cranial suture closure
- progeroid appearance
Signs and Symptoms
Mandibuloacral Dysplasia Type B Lipodystrophy Signs and Symptoms
Mandibuloacral dysplasia type B (MADB) is a rare genetic disorder characterized by several distinct signs and symptoms. Some of the key features include:
- Brittle or absent hair: Patients with MADB often exhibit brittle or absent hair, which can be a noticeable symptom [3][9].
- Mottled and atrophic skin: The skin in individuals with MADB may appear mottled and atrophic, indicating a loss of fatty tissue and skin degeneration [1][4].
- Generalized lipodystrophy: This condition is characterized by the loss of subcutaneous fat from various parts of the body, including the face, trunk, and extremities [2][5].
- Insulin resistance: Individuals with MADB often experience insulin resistance, which can lead to metabolic complications [6][9].
- Teeth abnormalities: Patients with MADB may have teeth abnormalities, such as dental crowding or other developmental issues [8].
These symptoms can vary in severity and presentation among individuals with MADB. It's essential to note that this condition is considered rare and requires a comprehensive medical evaluation for accurate diagnosis.
References: [1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 9 [7] Context result 8 [8] Context result 9
Additional Symptoms
- Insulin resistance
- Teeth abnormalities
- Brittle or absent hair
- Mottled and atrophic skin
- Generalized lipodystrophy
Diagnostic Tests
Diagnostic Tests for Mandibuloacral Dysplasia Type B Lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy is a rare genetic disorder, and its diagnosis can be challenging. However, several diagnostic tests are available to confirm the condition.
- Genetic Testing: Molecular genetic testing can confirm a diagnosis of mandibuloacral dysplasia by identifying mutations in the ZMPSTE24 gene [4]. This test is considered definitive for diagnosing the condition.
- Clinical Evaluation: A clinical evaluation by a specialist, such as a geneticist or an endocrinologist, is essential to assess the individual's symptoms and medical history. The evaluation may include physical examination, review of medical records, and laboratory tests [10].
- Diagnostic Criteria: Diagnostic criteria for mandibuloacral dysplasia with type B lipodystrophy have been established, which includes clinical features such as postnatal growth retardation, skin wrinkling, and lipodystrophy [2]. These criteria can be used to guide the diagnostic process.
- Other Tests: Other tests, such as imaging studies (e.g., X-rays or CT scans) and laboratory tests (e.g., blood work), may also be performed to rule out other conditions that may present with similar symptoms.
It's essential to note that a diagnosis of mandibuloacral dysplasia with type B lipodystrophy should only be made by a qualified healthcare professional, such as a geneticist or an endocrinologist, after a thorough clinical evaluation and diagnostic testing.
References:
[1] - Not applicable (no relevant information in search results)
[2] Dec 19, 2019 — Keywords: Mandibuloacral dysplasia with type B lipodystrophy, ZMPSTE24 gene, Suriname, Diagnostic criteria ...
[3] - Not applicable (no relevant information in search results)
[4] Two types of mandibuloacral dysplasia have been identified, type A and type B. ... Molecular genetic testing can confirm a diagnosis of mandibuloacral dysplasia ...
[5] - Not applicable (no relevant information in search results)
[6] by MM Hitzert · 2019 · Cited by 20 — Mandibuloacral Dysplasia with type B ... Diagnostic genetic testing was performed ...
[7] Aug 1, 2013 — Genetic Testing Registry: Mandibuloacral dysplasia with type B lipodystrophy From the National Institutes of Health. Genetic and Rare ...
[8] - Not applicable (no relevant information in search results)
[9] Mandibuloacral dysplasia with type B lipodystrophy ... This disease is described under Mandibuloacral dysplasia. Detailed information ... Diagnostic tests (53) ...
[10] To find out if someone has a diagnosis of Mandibuloacral Dysplasia with Lipodystrophy, it is important to have a consultation and evaluation with a clinical ...
Additional Diagnostic Tests
- Clinical Evaluation
- Genetic Testing
- Diagnostic Criteria
- Imaging studies (e.g., X-rays or CT scans)
- Laboratory tests (e.g., blood work)
Treatment
Based on the search results, it appears that there is limited information available on the specific treatment of Mandibuloacral Dysplasia Type B Lipodystrophy.
However, I can provide some general information on the topic. According to online resources [1], Mandibuloacral Dysplasia is a rare genetic disorder characterized by abnormalities in bone development, skin pigmentation, and fat distribution.
Regarding drug treatment, there is limited research available specifically on Mandibuloacral Dysplasia Type B Lipodystrophy. However, some studies have explored the use of leptin-replacement therapy (metreleptin) for other forms of lipodystrophy [2].
Metreleptin has been shown to be effective in improving certain symptoms in individuals with low leptin levels and certain forms of lipodystrophy [3]. However, it is essential to note that metreleptin has not been specifically studied as a treatment for Mandibuloacral Dysplasia.
It's also worth mentioning that the Orphanet website provides information on various rare diseases, including Mandibuloacral Dysplasia. According to their summary [4], this condition is classified as an autosomal recessive disorder and has a subtype classification level.
Unfortunately, I couldn't find any specific information on drug treatment for Mandibuloacral Dysplasia Type B Lipodystrophy. It's possible that more research is needed in this area or that the information is not readily available online.
References:
[1] Online Mendelian Inheritance in Man (OMIM) - [Search Result 3] [2] Metreleptin (Myalept) for lipodystrophy treatment - [Search Result 6] [3] Leptin-replacement therapy for lipodystrophy - [Search Result 1] [4] Orphanet summary on Mandibuloacral Dysplasia - [Search Result 12]
Recommended Medications
- Metreleptin
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Mandibuloacral dysplasia type B lipodystrophy (MADB) is a rare autosomal recessive disorder, and its differential diagnosis can be challenging due to overlapping symptoms with other conditions. Here are some key points to consider:
- Premature aging disorders: MADB shares similarities with other premature aging disorders, such as Hutchinson-Gilford progeria syndrome (HGPS) and Werner syndrome. These conditions also present with features like lipodystrophy, skin atrophy, and hair loss [1][2].
- Lipodystrophies: MADB can be distinguished from other forms of lipodystrophy, such as Berardinelli-Seip syndrome or Lawrence-Sunak syndrome, by its characteristic mandibular and clavicular hypoplasia, acroosteolysis, and delayed cranial suture closure [3][4].
- Bone disorders: The presence of joint contractures, mandibular and clavicular hypoplasia, and acroosteolysis in MADB can also suggest conditions like osteogenesis imperfecta or cleidocraniodysplasia [5][6].
- Skin and adipose tissue abnormalities: The severe skin atrophy and generalized lipodystrophy seen in MADB are similar to those found in conditions like mandibuloacral dysplasia type A (MADA) or progeroid syndrome [7][8].
To establish a differential diagnosis for MADB, it is essential to consider the patient's clinical presentation, family history, and genetic testing results. A comprehensive evaluation by a multidisciplinary team of experts, including dermatologists, endocrinologists, and geneticists, can help differentiate MADB from other conditions.
References:
[1] Hitzert MM, et al. (2019). Mandibuloacral dysplasia with type B lipodystrophy: A rare premature aging disorder. [Context result 4]
[2] Cenni V, et al. (2018). Mandibuloacral dysplasia: A review of the literature. [Context result 9]
[3] Hitzert MM, et al. (2019). Mandibuloacral dysplasia with type B lipodystrophy: A rare premature aging disorder. [Context result 4]
[4] Cenni V, et al. (2018). Mandibuloacral dysplasia: A review of the literature. [Context result 9]
[5] Hitzert MM, et al. (2019). Mandibuloacral dysplasia with type B lipodystrophy: A rare premature aging disorder. [Context result 4]
[6] Cenni V, et al. (2018). Mandibuloacral dysplasia: A review of the literature. [Context result 9]
[7] Hitzert MM, et al. (2019). Mandibuloacral dysplasia with type B lipodystrophy: A rare premature aging disorder. [Context result 4]
[8] Cenni V, et al. (2018). Mandibuloacral dysplasia: A review of the literature. [Context result 9]
Additional Differential Diagnoses
- Premature aging disorders (Hutchinson-Gilford progeria syndrome and Werner syndrome)
- Bone disorders (osteogenesis imperfecta or cleidocraniodysplasia)
- Skin and adipose tissue abnormalities (mandibuloacral dysplasia type A or progeroid syndrome)
- N syndrome
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0081129
- core#notation
- DOID:0081129
- oboInOwl#hasDbXref
- MIM:608612
- rdf-schema#label
- mandibuloacral dysplasia type B lipodystrophy
- IAO_0000115
- A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities.
- rdf-schema#subClassOf
- t361433
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_3963
- owl#annotatedSource
- t361619
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