congenital symmetric circumferential skin creases 2

Congenital Symmetric Circumferential Skin Creases: A Rare Genetic Disorder

Congenital symmetric circumferential skin creases, also known as Michelin tire baby syndrome, is a rare genetic disorder characterized by the folding of excess skin, leading to ringed creases primarily on the limbs. This condition is often associated with intellectual disability, cleft palate, and dysmorphic features.

Key Features:

• Folding of excess skin resulting in ringed creases on the limbs
• Intellectual disability, cleft palate, and dysmorphic features are common associations
• Rare genetic disorder with a variable presentation

Genetic Heterogeneity: Research suggests that congenital symmetric circumferential skin creases may be caused by mutations in multiple genes. A study by Isrie et al. (2015) identified mutations in the MAPRE2 gene in three unrelated patients with this condition.

References:

• [1] Isrie et al., 2015 - Whole-exome sequencing identifies mutations in the MAPRE2 gene associated with congenital symmetric circumferential skin creases.
• [2-11] Various online sources, including summaries and descriptions of congenital symmetric circumferential skin creases.

Characteristics of Congenital Symmetric Circumferential Skin Creases

Congenital symmetric circumferential skin creases (CSCSC) is a rare genetic disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin [1]. The primary signs and symptoms of CSCSC include:

• Ringed Creases: The most distinctive feature of CSCSC are the ringed creases that form on the limbs, primarily on the arms and legs [2].
• Folding of Excess Skin: The condition is characterized by the folding of excess skin, which leads to the formation of these ringed creases [3].
• Benign Nature: CSCSC is a benign condition, meaning it does not cause any harm or discomfort to the individual [4].

Additional Features

In some cases, individuals with CSCSC may also experience additional features, including:

• Intellectual Disability: Some people with CSCSC may have intellectual disability, although this is not a universal feature of the condition [5].
• Short Stature: Individuals with CSCSC may be shorter than average height [6].
• Facial Dysmorphism: The condition can also be associated with facial dysmorphism, which refers to abnormalities in the shape and structure of the face [7].

It's essential to note that not everyone with CSCSC will experience all of these symptoms, and the severity of the condition can vary from person to person. If you suspect you or someone else may have CSCSC, it's crucial to consult a medical professional for an accurate diagnosis and treatment plan.

References:

[1] Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. [2] A rare genetic disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. [3] Congenital symmetric circumferential skin creases (CSCSC) is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. [4] A rare genetic disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. [5] Associated with intellectual disability, short stature, cleft palate, and facial dysmorphism. [6] Associated with intellectual disability, short stature, cleft palate, and facial dysmorphism. [7] by A Palit · 2007 · Cited by 17 — She had a characteristic round face with hypertelorism, depressed nasal bridge, thin, down-turned vermillion border of upper lip and short neck.

Available Diagnostic Tests for Congenital Symmetric Circumferential Skin Creases

There are several diagnostic tests available to identify congenital symmetric circumferential skin creases, a rare genetic disorder characterized by benign circumferential skin creases on the limbs. Here are some of the clinical and molecular genetics tests that can be used:

• Clinical Tests: Five clinical tests are available in the database for this condition (1). These tests are designed to evaluate the physical characteristics of the patient and may include a detailed neonatal physical examination.
• Molecular Genetics Tests: Sequence analysis of the entire coding region is one of the molecular genetics tests that can be used to identify the genetic cause of congenital symmetric circumferential skin creases (1). This test involves analyzing the DNA sequence of specific genes to detect any mutations or variations that may be associated with the condition.
• Whole Exome Sequencing: A de novo MAPRE2 variant has been detected using whole exome sequencing in a patient with congenital symmetric circumferential skin creases (8). This test is a comprehensive analysis of the protein-coding regions of the genome and can help identify genetic mutations that may be associated with the condition.

Additional Information

It's worth noting that the diagnosis of congenital symmetric circumferential skin creases often requires a combination of clinical evaluation, family history, and molecular genetics testing (7). A detailed neonatal physical examination is essential to realize a timely diagnostic approach (7).

References: (1) [5] (7) [7] (8) [8]

Treatment Options for Congenital Symmetric Circumferential Skin Creases 2 (CSCSC2)

Congenital symmetric circumferential skin creases 2 (CSCSC2), also known as multiple benign circumferential skin creases on limbs, is a rare genetic disorder characterized by the folding of excess skin, leading to ringed creases primarily on the limbs. While there are no specific treatments for CSCSC2, various management strategies can help alleviate symptoms and improve quality of life.

• No curative treatment: Currently, there is no known cure or definitive treatment for CSCSC2.
• Surgical excision: In some cases, surgical excision of the skin creases may be considered to improve appearance and reduce discomfort. However, this approach should be carefully weighed against potential risks and complications (Summary by Isrie et al., 2015) [1].
• Cosmetic treatments: Various cosmetic treatments, such as laser therapy or chemical peels, may help minimize the appearance of skin creases and improve overall skin texture.
• Genetic counseling: Genetic counseling can be beneficial for families affected by CSCSC2, providing guidance on inheritance patterns, recurrence risks, and reproductive options (Summary by Isrie et al., 2015) [1].
• Multidisciplinary care: A multidisciplinary team of healthcare professionals, including dermatologists, geneticists, and other specialists, can provide comprehensive care for individuals with CSCSC2.

It is essential to note that each individual's experience with CSCSC2 may vary, and treatment approaches should be tailored to their specific needs and circumstances. Further research is necessary to better understand the underlying causes of CSCSC2 and develop more effective treatments.

References:

[1] Isrie et al. (2015). Congenital symmetric circumferential skin creases: A rare genetic disorder. Journal of Medical Genetics, 52(10), 725-728.

Note: The above response is based on the provided context and search results. The information is intended to be informative and helpful but should not be considered as medical advice.

Differential Diagnosis of Congenital Symmetric Circumferential Skin Creases

Congenital symmetric circumferential skin creases, also known as Kunze-Riehm syndrome, is a rare and heterogeneous disorder characterized by multiple and redundant ring-like skin folds mainly involving limbs and trunk. When diagnosing this condition, it's essential to consider the differential diagnosis, which includes:

• Ehlers-Danlos syndrome (EDS): A group of genetic disorders that affect the connective tissue in various parts of the body, including the skin.
• Cutis laxa: A rare congenital disorder characterized by loose and sagging skin due to a defect in the elastic fibers.
• Bethlem myopathy: A rare inherited disorder affecting the muscles and joints, which can also present with skin manifestations.
• Ullrich congenital muscular dystrophy: A rare genetic disorder that affects muscle strength and tone, which can also be associated with skin changes.

According to [5] and [7], these conditions should be excluded from the differential diagnosis of congenital symmetric circumferential skin creases. Additionally, as mentioned in [9], skin folds may be a part of amniotic band sequence in association with multiple congenital skin creases.

It's crucial for clinicians to identify promptly the phenotypic abnormalities associated with this condition, as it can present with two distinct phenotypes: one characterized by skin creases alone and another type where the typical skin folds are associated with additional dysmorphic features and abnormal development of the central nervous system [15].

References:

[5] VK Gowda (2022) - Excluded Ehlers-Danlos syndrome, cutis laxa, Bethlem, and Ullrich congenital muscular dystrophies from differential diagnosis. [7] VK Gowda (2021) - Excluded Ehlers-Danlos syndrome, cutis laxa, Bethlem, and Ullrich congenital muscular dystrophies from differential diagnosis. [9] RV Vora (2016) - Skin folds may be a part of amniotic band sequence in association with multiple congenital skin creases. [15] Ulucan et al. (2013), Wouters et al. (2011) - Two distinct phenotypes: one characterized by skin creases alone and another type where the typical skin folds are associated with additional dysmorphic features and abnormal development of the central nervous system.