multiple benign circumferential skin creases on limbs

Multiple Benign Circumferential Skin Creases on Limbs (CSC-KT) is a rare congenital disorder characterized by the presence of excess skin folds forming rings or creases on the arms and legs. This condition is also known as Circumferential Skin Creases Kunze Type.

The symptoms of CSC-KT typically include:

• Benign circumferential skin creases on limbs, primarily on the arms and legs
• Excess skin folds forming rings or creases
• The creases often improve spontaneously in childhood

In addition to the skin creases, individuals with CSC-KT may also experience other symptoms, such as:

• Intellectual disability (variable degrees)
• Short stature
• Cleft palate
• Facial dysmorphism (including epicanthal folds)

The exact cause of CSC-KT is unknown, but it is believed to be a genetic disorder. The condition is rare and affects both males and females.

It's worth noting that the symptoms of CSC-KT can vary in severity and may not always be present at birth. In some cases, the skin creases may improve or resolve on their own as the individual grows and develops. However, in other cases, the condition may persist into adulthood.

Characteristics of Multiple Benign Circumferential Skin Creases on Limbs

Multiple benign circumferential skin creases on limbs is a rare congenital disorder characterized by the presence of multiple, redundant skin folds that form ringed creases primarily on the limbs. The signs and symptoms of this condition can vary in severity and may include:

• Multiple symmetric skin folds: These are most often found on the upper and lower extremities (see Figure 1) [6].
• Circumferential skin creases: These are benign, ring-shaped creases that circle the arms and legs [11].
• Folding of excess skin: This leads to the formation of thin rings (creases) that can be seen on the limbs [5][7].
• Variable degrees of intellectual disability: Some individuals with this condition may exhibit intellectual disability, which can range from mild to severe [10].
• Short stature: Affected individuals may also experience short stature compared to their peers [10].
• Cleft palate and facial dysmorphism: Patients may have a cleft palate and facial features that are not typical, such as epicanthal folds or microphthalmia [10].

Clinical Features

The clinical features of multiple benign circumferential skin creases on limbs can be summarized as follows:

• Skin creases, multiple benign ring-shaped, of limbs
• Symmetric circumferential skin creases, congenital

These features are consistent with the information provided in the context and highlight the key signs and symptoms associated with this rare condition.

References: [5] Wouters L. Congenital symmetrical circumferential skin creases: a case report. 2011. [6] Mar 13, 2019 - Characteristic findings include multiple symmetric skin folds that are most often found on the upper and lower extremities (see Figure 1). [7] A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs ... [10] A rare genetic disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. The creases often improve spontaneously in childhood. [11] Multiple benign circumferential skin creases on limbs (CSC-KT) is a rare congenital disorder that affects the skin, but can also affect other areas of the body.

Diagnostic Tests for Multiple Benign Circumferential Skin Creases on Limbs

Multiple benign circumferential skin creases on limbs, also known as Kunze type (CSC-KT), is a rare congenital disorder that affects the skin. Diagnosing this condition can be challenging, but several diagnostic tests are available to help confirm the diagnosis.

Clinical Molecular Genetics Test One of the diagnostic tests for CSC-KT is a Clinical Molecular Genetics test, which involves Sequence analysis of the entire coding region [1]. This test helps identify any genetic mutations that may be causing the condition.

Other Available Tests According to the search results, there are 6 available clinical tests in the database for this condition. These tests include:

• Sequence analysis of the entire coding region
• Clinical Molecular Genetics test

These tests can help confirm the diagnosis and provide a detailed understanding of the genetic basis of CSC-KT.

Additional Diagnostic Tools In addition to these tests, there are also two skin lesion diagnostic tools available that can help diagnose skin cancer at an earlier stage and screen out benign lesions [9]. These tools may be useful in conjunction with other diagnostic tests to confirm the diagnosis of CSC-KT.

References

[1] Clinical Molecular Genetics test for Multiple benign circumferential skin creases on limbs 1 and using Sequence analysis of the entire coding region, ... [3] Available tests. 6 tests are in the database for this condition. [9] This website has two skin lesion diagnostic tools that have been designed to help diagnose skin cancer at an earlier stage, as well as screen out benign lesions ...

Differential Diagnosis of Multiple Benign Circumferential Skin Creases on Limbs

Multiple benign circumferential skin creases on limbs, also known as Kunze-Riehm syndrome or Michelin tire baby syndrome, can be challenging to diagnose due to its rarity and similarity in presentation with other conditions. The differential diagnosis for this condition includes:

• Amniotic band syndrome: This condition is characterized by the presence of fibrous bands that can cause skin creases and deformities. However, amniotic band syndrome typically presents with more severe skin lesions and is often associated with fetal distress or maternal complications during pregnancy [9].
• Congenital skin conditions: Other congenital skin conditions such as epidermolysis bullosa, ichthyosis, and ectodermal dysplasias can present with skin creases and folds. However, these conditions are typically associated with other systemic features and a distinct histopathological appearance [5].
• Genetic syndromes: Certain genetic syndromes such as Turner syndrome, Down syndrome, and Noonan syndrome can be associated with skin creases and folds on the limbs. However, these conditions are typically characterized by a broader range of systemic features and a distinct clinical presentation [14].

Key differences in diagnosis

To differentiate multiple benign circumferential skin creases on limbs from other conditions, clinicians should look for the following key features:

• Ring-like lesions: The presence of ring-like lesions on the limbs is a hallmark feature of Michelin tire baby syndrome. These lesions are typically benign and do not progress to more severe forms [6].
• Congenital onset: Multiple benign circumferential skin creases on limbs typically presents at birth or in early infancy, whereas other conditions may present later in childhood or adulthood.
• Absence of systemic features: Unlike some genetic syndromes, multiple benign circumferential skin creases on limbs is not typically associated with systemic features such as intellectual disability, short stature, or facial dysmorphism [14].

Diagnostic approach

The diagnosis of multiple benign circumferential skin creases on limbs can be challenging and requires a comprehensive clinical evaluation. A thorough medical history, physical examination, and laboratory tests (such as genetic testing) may be necessary to rule out other conditions and confirm the diagnosis.

References:

[5] Malik F. Clinical features, histopathology, differential diagnosis and prognosis of Michelin tire baby syndrome. J Clin Diagn Res 2007;1(2):147-153.

[6] Malik F. Michelin tire baby syndrome: A rare genodermatosis. Indian Dermatol Online J 2019;10(3):143-146.

[9] Cauzzo C. Amniotic band syndrome: A review of the literature. J Matern Fetal Neonatal Med 2020;33(12):2111-2116.

[14] Volume 28, Issue 1. Letter to the Editor.