4 free views remaining today
autosomal recessive cutis laxa type I
Description
Autosomal Recessive Cutis Laxa Type I (ARCL1) is a rare and life-threatening disorder that affects the connective tissue in the body.
Characteristics of ARCL1:
- Skin involvement: The skin is loose, wrinkled, sagging, redundant, and lacks elasticity.
- Organ involvement: The disorder can affect various organs, including the lungs (leading to lung atelectasis and emphysema), gastrointestinal tract, genitourinary system, and others.
- Severe systemic symptoms: Patients with ARCL1 may experience severe systemic symptoms, such as respiratory distress, digestive problems, and other complications.
Prevalence and inheritance:
- Inherited disorder: ARCL1 is an autosomal recessive disorder, meaning that it is inherited in a recessive pattern.
- Rare condition: The exact prevalence of ARCL1 is unknown, but it is considered to be a rare condition.
Clinical spectrum:
- Highly heterogeneous: The clinical spectrum of ARCL1 is highly heterogeneous with respect to organ involvement and severity (Morava, 2009) [5][9].
- Variable presentation: Patients with ARCL1 can present with variable symptoms, ranging from mild to severe.
References:
- Morava, É. (2009). The clinical spectrum of the autosomal recessive cutis laxa syndromes is highly heterogeneous with respect to organ involvement and severity. [5][9]
- Type I autosomal recessive cutis laxa (ARCL1) is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal tract, and other complications. [4]
Additional Characteristics
- Skin involvement: The skin is loose, wrinkled, sagging, redundant, and lacks elasticity.
- Organ involvement: The disorder can affect various organs, including the lungs (leading to lung atelectasis and emphysema), gastrointestinal tract, genitourinary system, and others.
- Severe systemic symptoms: Patients with ARCL1 may experience severe systemic symptoms, such as respiratory distress, digestive problems, and other complications.
- Highly heterogeneous clinical spectrum: The disorder is highly heterogeneous with respect to organ involvement and severity.
- Variable presentation: Patients can present with variable symptoms, ranging from mild to severe.
Signs and Symptoms
Autosomal recessive cutis laxa type I, also known as Beigleman syndrome, is a rare genetic disorder characterized by loose, wrinkled, and sagging skin. The signs and symptoms of this condition typically begin in infancy and can include:
- Loose skin: One of the hallmark features of autosomal recessive cutis laxa type I is loose, wrinkled, and sagging skin that lacks elasticity [2][3].
- Delayed development: People with this condition may experience delayed development, which can manifest as slow growth and development during infancy and childhood [1].
- Intellectual disability: Autosomal recessive cutis laxa type I is often associated with intellectual disability, which can range from mild to severe [5].
- Facial dysmorphism: Individuals with this condition may exhibit facial dysmorphism, including a hooked nose and mournful or Churchillian facies [5].
It's worth noting that the severity and progression of symptoms can vary widely among individuals with autosomal recessive cutis laxa type I. In some cases, the condition may be associated with other systemic features, such as skeletal abnormalities and problems with internal organs.
References:
[1] Aug 5, 2021 — In addition to the features described above, people with autosomal recessive cutis laxa can have delayed development, intellectual disability, ...
[2] Sep 22, 2015 — Cutis laxa is characterized by skin that is loose (lax), wrinkled, sagging, redundant, and lacking elasticity (inelastic).
[3] Feb 21, 2024 — A hallmark of cutis laxa disorders is sagging, wrinkly skin that isn't elastic. If you stretch the skin, it moves abnormally slowly back into ...
[5] Affected children have mournful or Churchillian facies and a hooked nose. The benign autosomal recessive form also causes intellectual disability and joint ...
Additional Symptoms
- Intellectual disability
- Facial dysmorphism
- Delayed development
- Loose skin
Diagnostic Tests
Autosomal recessive cutis laxa type I (ARCL I) can be diagnosed through a combination of clinical examination, family history, and specific laboratory findings.
Clinical Examination A physical exam is the first step in diagnosing ARCL I. A healthcare professional will look for signs of loose, wrinkled, and sagging skin, which are characteristic of this condition [3]. The skin may also appear redundant and lack elasticity [5].
Family History Since ARCL I is an autosomal recessive disorder, a family history of the condition can be an important clue in diagnosis. If there is a known family history of cutis laxa, it can increase suspicion for this condition [8].
Laboratory Findings While there are no specific laboratory findings for ARCL I, certain tests can help confirm the diagnosis. These include:
- Skin Biopsy: A skin biopsy may reveal abnormalities in elastic fibers, which is a hallmark of cutis laxa [3][8].
- Electron Microscopy: Electron microscopy can be diagnostic in most types of autosomal recessive cutis laxa, especially in the severe forms of ARCL I and II [6].
Genetic Testing Genetic testing can also be used to confirm a diagnosis of ARCL I. This involves analyzing genes associated with the condition, such as FBLN5 [2].
It's worth noting that diagnosis is based on clinical examination, family history, and pathognomonic histological findings (sparse, fragmented elastic fibers) on skin biopsies [8].
Additional Diagnostic Tests
- Skin Biopsy
- Genetic Testing
- Electron Microscopy
Treatment
Based on the provided context, it appears that there are limited treatment options available for autosomal recessive cutis laxa type I.
According to search result [4], autosomal recessive cutis laxa exhibits high heterogeneity, with 2 types—type 1 and type 2—featuring distinct extracutaneous involvement. However, specific treatment options for type I are not mentioned in this source.
Search result [9] mentions that bisphosphonate therapy has been reported to show significant clinical improvement and stabilization in patients with cutis laxa. However, it is unclear if this treatment option is specifically effective for autosomal recessive cutis laxa type I.
Unfortunately, search results [8], [10] do not provide any specific information on drug treatment for autosomal recessive cutis laxa type I.
It's worth noting that search result [9] suggests that bisphosphonate therapy may be beneficial in managing symptoms and complications associated with cutis laxa. However, this should be interpreted with caution as it is not specifically mentioned to be effective for autosomal recessive cutis laxa type I.
In summary, while there are some general treatment options available for cutis laxa, specific drug treatment options for autosomal recessive cutis laxa type I appear to be limited. Further research and clinical trials may be necessary to determine the most effective treatment strategies for this condition.
- Bisphosphonate therapy has been reported to show significant clinical improvement and stabilization in patients with cutis laxa [9].
- Specific treatment options for autosomal recessive cutis laxa type I are not mentioned in available search results.
- Management of symptoms and complications associated with cutis laxa may involve symptomatic treatment and supportive care, but specific drug treatments are limited [8][10].
Recommended Medications
- Supportive care
- Symptomatic treatment
- Bisphosphonate therapy
- Limited treatment options
💊 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
Differential Diagnosis of Autosomal Recessive Cutis Laxa Type I
Autosomal recessive cutis laxa (ARCL) type I is a rare genetic disorder characterized by wrinkled, redundant, and sagging skin. The differential diagnosis for ARCL type I should include other forms of cutis laxa and related syndromes.
Other Forms of Cutis Laxa:
- Autosomal Dominant Cutis Laxa: This form is less common than the autosomal recessive type and tends to have a later onset. It can be caused by variants in the FBLN5, EFEMP2, LTBP4, ATP6V0A2, PYCR1, or ALDH18A1 gene [2].
- X-linked Cutis Laxa: Also known as occipital horn syndrome, this form is a rare X-linked disorder that affects males. It can be caused by variants in the ATP7A gene [4].
Related Syndromes:
- Gerodermia Osteodysplastica: This is a rare genetic disorder characterized by wrinkled skin and skeletal abnormalities. While it shares some similarities with ARCL type I, it has distinct clinical features [1].
- De Barsy Syndrome A: Also known as cutis laxa, autosomal recessive, type IIIA, this syndrome is caused by variants in the PYCR1 gene. It presents with wrinkled skin and skeletal abnormalities similar to ARCL type I [3].
Key Diagnostic Features:
- Loose skin
- Bone abnormalities (e.g., delayed joining of skull bones, hip dislocation)
- Abnormal elastin fibers
These features should be considered when differentiating ARCL type I from other forms of cutis laxa and related syndromes.
References:
[1] The differential diagnosis for gerodermia osteodysplastica includes autosomal recessive cutis laxa type I [context 6].
[2] Autosomal dominant cutis laxa can be caused by variants in the FBLN5, EFEMP2, LTBP4, ATP6V0A2, PYCR1, or ALDH18A1 gene [context 2].
[3] De Barsy syndrome A is caused by variants in the PYCR1 gene and presents with wrinkled skin and skeletal abnormalities similar to ARCL type I [context 3].
[4] X-linked cutis laxa, also known as occipital horn syndrome, is a rare X-linked disorder that affects males and can be caused by variants in the ATP7A gene [context 4].
Additional Differential Diagnoses
- autosomal dominant cutis laxa 2
- autosomal recessive cutis laxa type IIIB
- X-linked Cutis Laxa
- Gerodermia Osteodysplastica
- N syndrome
- autosomal dominant cutis laxa 1
Additional Information
- rdf-schema#subClassOf
- t345170
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_2016
- owl#annotatedSource
- t345524
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0070144
- core#notation
- DOID:0070144
- oboInOwl#hasDbXref
- UMLS_CUI:C0432336
- IAO_0000115
- A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particularly in the lungs, vasculature, and gastrointestinal and genitourinary systems.
- oboInOwl#hasExactSynonym
- autosomal recessive cutis laxa type 1
- rdf-schema#label
- autosomal recessive cutis laxa type I
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.