congenital symmetric circumferential skin creases 1

Congenital Symmetric Circumferential Skin Creases (CSCSC)

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:

• Generalized folding of excess skin, resulting in ringed creases
• Primarily affects the limbs
• Associated with intellectual disability, cleft palate, and dysmorphic features

References:

• [1] Isrie et al. (2015) - Identified mutations in the MAPRE2 gene in 3 unrelated patients with CSCSC.
• [2-12] Various sources confirm the characteristics of CSCSC, including the folding of excess skin, intellectual disability, and dysmorphic features.

Note: The references provided are based on the search results and may not be an exhaustive list of all relevant studies or publications.

Characteristics of Congenital Symmetric Circumferential Skin Creases

Congenital symmetric circumferential skin creases, also known as CSCSC, is a rare genetic disorder characterized by the folding of excess skin, leading to ringed creases primarily on the limbs. The condition is often associated with other symptoms, including:

• Intellectual disability: Affected individuals may experience intellectual disability, which can vary in severity.
• Cleft palate: A cleft palate, a congenital defect in the roof of the mouth, is also commonly observed in individuals with CSCSC.
• Dysmorphic features: Facial and body features may be abnormal or "dysmorphic," meaning they do not conform to typical developmental patterns.

Additional Symptoms

In some cases, individuals with CSCSC may experience additional symptoms, such as:

• Seizures: Seizure activity has been reported in a few cases.
• Hypotonia: Low muscle tone or hypotonia can be present.
• Hearing loss: Hearing difficulties have been observed.

Key Points

It is essential to note that the severity and presence of these symptoms can vary significantly among individuals with CSCSC. The condition is often diagnosed through a combination of clinical evaluation, family history, and genetic testing.

References:

[1] Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). [2][3][4][14]

[6] An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. [7] Associated with intellectual disability, short stature, cleft palate, and facial dysmorphism.

Note: The numbers in square brackets refer to the search results provided in the context.

Diagnostic Tests for Congenital Symmetric Circumferential Skin Creases

Congenital symmetric circumferential skin creases (CSCSC) is a rare genetic disorder characterized by the folding of excess skin, leading to ringed creases on the limbs. To diagnose this condition, several clinical and molecular genetics tests can be performed.

• Clinical Tests: There are 5 available clinical tests for CSCSC in the database [1]. These tests typically involve a detailed physical examination of the newborn to identify characteristic symptoms such as symmetric skin folds.
• Molecular Genetics Tests: Sequence analysis of the entire coding region is one of the molecular genetics tests used to diagnose CSCSC [2]. This test can help identify genetic mutations associated with the condition.

In addition, other diagnostic tests may be performed to rule out other conditions or to confirm the diagnosis. These may include:

• Physical Examination: A detailed physical examination by a healthcare professional is essential to identify characteristic symptoms of CSCSC [7].
• Genetic Testing: Genetic testing can help identify genetic mutations associated with CSCSC [4].

It's worth noting that a timely diagnostic approach is crucial in realizing the best possible outcome for affected individuals. Early diagnosis and treatment can significantly improve the quality of life for those living with CSCSC.

References: [1] - Available tests for CSCSC [2] - Molecular Genetics Tests for CSCSC [4] - Genetic Testing for CSCSC [7] - Physical Examination for CSCSC

Differential Diagnosis of Congenital Symmetric Circumferential Skin Creases

Congenital symmetric circumferential skin creases (CSCSC) is a rare genetic disorder characterized by the folding of excess skin, leading to ringed creases primarily on the limbs. When diagnosing CSCSC, it's essential to consider differential diagnoses that can mimic or co-occur with this condition.

Possible Differential Diagnoses:

• Ehlers-Danlos syndrome (EDS): A group of genetic disorders affecting collagen production, leading to skin hyperextensibility and joint laxity. [5][8]
• Cutis laxa: A rare congenital disorder characterized by loose, sagging skin due to elastin deficiency. [5][8]
• Bethlem myotonia congenita: A rare genetic disorder affecting muscle tone and elasticity, leading to skin creases and folds. [5][8]
• Ullrich congenital muscular dystrophy: A rare genetic disorder affecting muscle development and leading to skin creases and folds. [5][8]

Other Considerations:

• Amniotic band sequence: A rare condition where amniotic bands can cause skin creases, folds, or other abnormalities. Diagnosis is mainly clinical. [9]
• Kunze-Riehm syndrome: Also known as circumferential skin creases (CSC), this rare disorder can be isolated or associated with extra-cutaneous findings. Two distinct phenotypes have been described. [12]

Genetic Heterogeneity:

• Congenital symmetric circumferential skin creases 1 (CSCSC1): A genetic disorder characterized by the folding of excess skin, leading to ringed creases primarily on the limbs. Genetic heterogeneity has been reported in this condition. [10][11][13]

References:

[5] VK Gowda · 2022 [8] VK Gowda · 2021 [9] RV Vora · 2016 [12] Ramphul et al., 2018; Rothman, 2014