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autosomal recessive cutis laxa type IIIB

ICD-10 Codes

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Description

Autosomal recessive cutis laxa type IIIB, also known as De Barsy syndrome or ARCL3B, is a rare and severe form of cutis laxa. It is characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa.

This condition is caused by homozygous or compound heterozygous mutations in the PYCR1 gene on chromosome 17q25. The symptoms of ARCL3B can vary in severity, but they often include:

  • Aged appearance with loose, redundant skin
  • Distinctive facial features, such as a flat face and prominent forehead
  • Sparse hair
  • Ophthalmologic abnormalities, including cataracts and glaucoma
  • Intrauterine growth retardation (IUGR)
  • Cutis laxa, which is the hallmark feature of this condition

ARCL3B is a rare disorder that affects only a few individuals worldwide. It is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

References:

  • [10] De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011).
  • [12] Classification of autosomal recessive cutis laxa is further divided into type II (ARCL2), associated with bone dystrophy, joint laxity, and developmental delay; and type III (ARCL3), or de Barsy syndrome, which presents very severe symptoms, with ocular involvement and mental retardation (summary by Davidson and Giro, 2002).
  • [14] If the latter symptom is present, the disorder is known as De Barsy syndrome (DBS) or autosomal recessive cutis laxa type 3B (ARCL3B, OMIM 614438).

Additional Characteristics

  • Autosomal recessive cutis laxa type IIIB
  • De Barsy syndrome
  • ARCL3B

Signs and Symptoms

Autosomal recessive cutis laxa type III (ARCL3), also known as de Barsy syndrome, is a rare genetic disorder characterized by severe symptoms. The main signs and symptoms of ARCL3 include:

  • Premature aging appearance: Individuals with ARCL3 often exhibit a prematurely-aged appearance, which can be quite striking.
  • Eye abnormalities: Eye problems are common in people with ARCL3, including corneal clouding and cataracts.
  • Growth retardation: Growth retardation is another characteristic feature of ARCL3, leading to short stature and delayed development.
  • Intellectual disability: Individuals with ARCL3 often have intellectual disabilities, which can range from mild to severe.
  • Connective tissue involvement: The connective tissue in various parts of the body, such as the skin, blood vessels, joints, intestines, and lungs, is affected, leading to loose and wrinkled skin, among other symptoms.

According to [10], the syndrome may also involve eye abnormalities, growth retardation, intellectual deficit, and corneal clouding with cataracts. The clinical spectrum of ARCL3 syndromes is highly heterogeneous with respect to organ involvement and severity [9].

It's worth noting that the specific symptoms present, severity, and prognosis can vary greatly depending upon the specific type of cutis laxa and the presence and extent of associated symptoms [1].

Additional Symptoms

  • Intellectual disability
  • Growth retardation
  • Eye abnormalities
  • Premature aging appearance
  • Connective tissue involvement

Diagnostic Tests

Autosomal Recessive Cutis Laxa (ARCL) Type III B is a rare genetic disorder characterized by loose, wrinkled, and sagging skin, among other symptoms.

Diagnostic tests for ARCL Type III B:

  • Electron Microscopy: This diagnostic test can help identify the presence of characteristic ultrastructural changes in the skin, which are often seen in severe forms of ARCL, including Type III B [7].
  • Genetic Analysis: A molecular diagnosis of this disorder can be provided through genetic analysis. This is recommended for individuals with a personal and/or family history of this disorder to ensure accurate diagnosis and management [6].

Other relevant information:

  • Cutis laxa is a disorder of connective tissue, which provides structure and strength to the muscles, joints, organs, and skin [4].
  • The condition is characterized by loose (lax), wrinkled, sagging, redundant, and inelastic skin [5].
  • Other common findings associated with ARCL Type III B include aortic dilation, inguinal hernias, pulmonary emphysema, cardiac valve abnormalities, hoarse voice, and mild facial dysmorphism [3].

References:

[1] Context 7 [2] Context 6 [3] Context 3 [4] Context 4 [5] Context 5 [6] Context 6 [7] Context 7

Additional Diagnostic Tests

  • Genetic Analysis
  • Electron Microscopy

Treatment

Based on the provided context, it appears that there is limited information available on the specific treatment for Autosomal Recessive Cutis Laxa Type III (ARCL3), also known as De Barsy syndrome.

However, I can provide some general information on the treatment of cutis laxa and related conditions. According to search result [5], De Barsy syndrome is a rare autosomal recessive disorder characterized by an aged appearance, among other symptoms. Unfortunately, there is no specific treatment mentioned for this condition in the provided context.

Regarding the treatment of cutis laxa in general, search result [9] mentions that no treatment exists to prevent disease progression, although dapsone can be used acutely to control swelling in persons with acquired cutis laxa. However, it's essential to note that this information is not specific to Autosomal Recessive Cutis Laxa Type III.

It's also worth mentioning that search result [14] provides general consumer drug information, which may include details on possible side effects and interactions of certain medications. However, this information is not directly related to the treatment of ARCL3.

In summary, while there is some general information available on the treatment of cutis laxa and related conditions, specific treatment options for Autosomal Recessive Cutis Laxa Type III (ARCL3) are limited in the provided context. Further research or consultation with a medical professional would be necessary to determine the most effective course of treatment.

References:

  • [5] De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance...
  • [9] No treatment exists to prevent disease progression, although dapsone can be used acutely to control swelling in persons with acquired cutis laxa.
  • [14] Multum leaflets provide basic consumer drug information...

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Differential Diagnosis

Autosomal recessive cutis laxa type III (ARCL3), also known as De Barsy syndrome, is a rare genetic disorder that can be challenging to diagnose due to its overlapping symptoms with other conditions. When considering the differential diagnosis of ARCL3, several conditions should be taken into account:

  • Ehlers-Danlos Syndrome: This condition is often considered in the differential diagnosis of cutis laxa due to its similar skin manifestations. However, Ehlers-Danlos Syndrome typically presents with joint hypermobility and skin fragility, which are not characteristic features of ARCL3 [4][5].
  • Autosomal Recessive Cutis Laxa Type I (ARCL-I): This condition is characterized by cutis laxa, growth retardation, and intellectual disability. While it shares some similarities with ARCL3, the presence of eye abnormalities and a progeria-like appearance in ARCL3 can help distinguish it from ARCL-I [7].
  • Autosomal Recessive Cutis Laxa Type II (ARCL-II): This condition is also characterized by cutis laxa, but it typically lacks the eye abnormalities and progeria-like features seen in ARCL3. The presence of athetoid movements and corneal opacification can help distinguish ARCL-III from both ARCL-II and ARCL-I [7].
  • Other conditions: Cutis laxa primarily affects the skin but can also lead to heart problems, blood vessel abnormalities, hernias, and lung disease. Other related conditions that may be considered in the differential diagnosis of ARCL3 include De Barsy syndrome, which is characterized by eye abnormalities, growth retardation, intellectual disability, a prematurely-aged appearance [6].

It's essential to note that the clinical diagnosis of ARCL3 is relatively easy in most patients, but Ehlers-Danlos Syndrome and other conditions may be considered in the differential diagnosis due to overlapping symptoms. A thorough evaluation of the patient's medical history, physical examination, and genetic testing can help confirm the diagnosis of ARCL3.

References: [4] É Morava · 2009 · Cited by 174 — [5] É Morava · 2009 · Cited by 174 — [6] De Barsy syndrome is a rare genetic disorder characterized by eye abnormalities, growth retardation, intellectual disability, a prematurely-aged appearance. [7] by E Morava · 2008 · Cited by 86 —

Additional Differential Diagnoses

Additional Information

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