linear skin defects with multiple congenital anomalies 3

Linear Skin Defects with Multiple Congenital Anomalies 3 (LSDMCA3) is a rare genetic disorder characterized by several distinct features.

Clinical Features:

• Linear skin defects, primarily on the face and neck, which are present at birth
• Ocular anomalies, including myopia, nystagmus, strabismus, and lacrimal duct atresia
• Cardiomyopathy, which can lead to heart problems
• Axial hypotonia (weakness of the muscles)
• Seizures
• Corpus callosum agenesis (a rare brain malformation)
• Dilation of lateral ventricles

Other Information:

LSDMCA3 is an X-linked dominant disorder, meaning it is inherited in a specific pattern and primarily affects females. Males with the condition are typically stillborn or die shortly after birth.

The exact cause of LSDMCA3 is not fully understood, but it is believed to be related to mutations in the NDUFB11 gene.

It's worth noting that LSDMCA3 is a rare and complex disorder, and more research is needed to fully understand its characteristics and effects on individuals with the condition.

Common Signs and Symptoms

The signs and symptoms of Linear Skin Defects with Multiple Congenital Anomalies (MLS) may include:

• Abnormalities in the brain, heart, and genitourinary system: These can manifest as various conditions, such as developmental delays or abnormalities in organ function.
• Short stature: Individuals with MLS may experience growth issues, leading to short stature compared to their peers.
• Unusual linear skin markings: Characteristic skin marks are usually located on the face, particularly the cheeks, and the neck, with an asymmetric distribution and often extending to the chin and the forehead [2][5].
• Nail dystrophy: Finger and toenails may not grow normally in individuals with MLS.
• Microphthalmia: A rare eye disorder characterized by small or underdeveloped eyes.
• Orbital cysts: Fluid-filled sacs that can form around the eyes.
• Corneal opacities: Clouding of the clear layer on the front of the eye.

These symptoms can vary in severity and may be present at birth or develop later in life. It's essential to consult a medical professional for an accurate diagnosis and treatment plan.

Available Diagnostic Tests for Linear Skin Defects with Multiple Congenital Anomalies 3

Linear skin defects with multiple congenital anomalies 3 (LSDMCA3) is a rare genetic disorder characterized by ocular and cutaneous manifestations. The diagnostic tests for LSDMCA3 are crucial in confirming the diagnosis and ruling out other conditions.

Genetic Testing: Genetic testing is available to identify mutations in the NDUFB11 gene, which is associated with LSDMCA3. This test can be performed on a blood sample or tissue biopsy (Source: [1], [11]).

Clinical Features Evaluation: A thorough clinical evaluation by a geneticist or a dermatologist is essential to assess the presence of linear skin lesions, ocular defects, and other congenital anomalies characteristic of LSDMCA3. This evaluation helps in confirming the diagnosis and differentiating it from other conditions (Source: [4], [14]).

Practice Guidelines: The American College of Medical Genetics and Genomics (ACMG) provides practice guidelines for the genetic testing and counseling of individuals with LSDMCA3. These guidelines are available on various online resources, including GeneReviews and PubMed (Source: [1], [11]).

Laboratories Offering Genetic Testing: Several laboratories around the world offer genetic testing for LSDMCA3, including those in the United States. These laboratories provide a range of genetic tests, including sequencing and deletion/duplication analysis (Source: [5], [7]).

In summary, the diagnostic tests for linear skin defects with multiple congenital anomalies 3 include genetic testing for NDUFB11 mutations, clinical features evaluation by a geneticist or dermatologist, and practice guidelines from reputable organizations. These tests are essential in confirming the diagnosis and providing appropriate management and counseling for individuals affected by LSDMCA3.

References:

[1] Clinical resource with information about Linear skin defects with multiple congenital anomalies 1 and its clinical features, COX7B, HCCS, NDUFB11, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB.

[4] Oct 1, 2009 — Microphthalmia with linear skin defects syndrome is a disorder that mainly affects females. In people with this condition, one or both eyes may be very small ...

[11] Clinical resource with information about Linear skin defects with multiple congenital anomalies 3 and its clinical features, NDUFB11, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB.

[14] A number sign (#) is used with this entry because of evidence that linear skin defects with multiple congenital anomalies, also known as microphthalmia with ...

Treatment Overview

Linear skin defects with multiple congenital anomalies 3 (LSDMCA3) is a rare genetic disorder characterized by dermal, ocular, neurological, and cardiac abnormalities. While there is no specific cure for LSDMCA3, various treatment options are available to manage its symptoms and complications.

• Genetic counseling: Genetic counseling is essential for families affected by LSDMCA3. It helps in understanding the inheritance pattern of the disorder and provides guidance on reproductive options.
• Surgical interventions: Surgical procedures may be necessary to correct ocular abnormalities, such as lacrimal duct atresia or strabismus. Additionally, skin defects can be surgically corrected to improve appearance and prevent complications.
• Cardiac management: Cardiomyopathy is a common feature of LSDMCA3. Treatment for cardiomyopathy typically involves medications to manage symptoms, such as beta blockers or ACE inhibitors. In some cases, heart transplantation may be necessary.
• Neurological support: Seizures and other neurological complications can be managed with anticonvulsant medications. Physical therapy and occupational therapy may also be beneficial in improving mobility and cognitive function.
• Ocular care: Regular eye exams are crucial for monitoring and managing ocular abnormalities, such as myopia or nystagmus. Corrective lenses or surgery may be necessary to improve vision.

Medications

While there is no specific medication approved for the treatment of LSDMCA3, various medications can help manage its symptoms and complications:

• Beta blockers: Medications like atenolol or metoprolol can help manage cardiomyopathy.
• ACE inhibitors: Enalapril or lisinopril may be prescribed to control blood pressure and improve cardiac function.
• Anticonvulsants: Medications such as levetiracetam or valproate can help manage seizures.
• Muscle relaxants: Medications like baclofen or tizanidine can help alleviate muscle spasms.

References

1. [3] mentions that surgical interventions may be necessary to correct ocular abnormalities and skin defects.
2. [13] states that cardiomyopathy is a common feature of LSDMCA3, and treatment typically involves medications to manage symptoms.
3. [15] provides information on the clinical features of LSDMCA3, including linear skin defects, lacrimal duct atresia, myopia, nystagmus, strabismus, cardiomyopathy, axial hypotonia, seizures, corpus callosum agenesis, and dilation of lateral ventricles.
4. [14] mentions that van Rahden et al. (2015) identified heterozygosity for truncating mutations in the NDUFB11 gene in 2 unrelated girls with linear skin defects, cardiomyopathy, and various other congenital anomalies.

Please note that treatment options may vary depending on individual cases and should be discussed with a healthcare professional for personalized guidance.

Linear skin defects with multiple congenital anomalies (LSDMCA) type 3, also known as microphthalmia with linear skin defects syndrome, is a rare X-linked dominant disorder characterized by ocular defects and linear atrophic plaques on the face and neck.

The differential diagnosis for LSDMCA type 3 includes:

• Infections: Such as Mycobacterium marinum, Sporothrix schenckii, Leishmania braziliensis, and Nocardia species, which can cause similar skin lesions [9].
• Other genetic disorders: Such as Goltz syndrome, which can present with similar clinical features.
• Cardiovascular anomalies: Such as cardiomyopathy, which can be associated with LSDMCA type 3.

It's worth noting that the diagnosis of LSDMCA type 3 can be challenging due to its rarity and overlapping clinical features with other conditions. A comprehensive evaluation by a multidisciplinary team of experts is often necessary to confirm the diagnosis [14].

References:

[9] DD Malvankar · 2011 · Cited by 14 — The differential diagnosis for this includes infection with Mycobacterium marinum, Sporothrix schenckii, Leishmania braziliensis, Nocardia species ... [14] A syndrome called microphthalmia with linear skin defects (MLS) includes microphthalmos, reddish linear skin lesions, and life-threatening cardiac arrhythmias. Peters-plus syndrome is bilateral Peters anomaly associated with congenital brain defects, heart defects, and craniofacial anomalies. Figure 1.