linear skin defects with multiple congenital anomalies 2

Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA)

Linear Skin Defects with Multiple Congenital Anomalies, also known as LSDMCA, is a rare genetic disorder that affects the eyes and skin. It is characterized by:

• Microphthalmia: Small or poorly developed eyes
• Linear skin defects: Irregular linear erythematous patches on the skin, sometimes covered by hemorrhagic crusts [5]
• In utero lethality for males: The condition is usually fatal in male fetuses [4]

LSDMCA is an X-linked dominant disorder, meaning it is mainly found in females. The condition is caused by a mutation in the HCCS gene [6].

Other features of LSDMCA may include:

• Unusual linear skin markings on the head and neck
• Microcephaly: Small head

Clinical Features of Linear Skin Defects with Multiple Congenital Anomalies 2

Linear skin defects with multiple congenital anomalies 2 (LSDMCA2) is a rare genetic disorder characterized by several clinical features. The main signs and symptoms of this condition include:

• Microphthalmia: Small or poorly developed eyes, which can be unilateral or bilateral.
• Linear Skin Lesions: Characteristic linear skin markings on the head and neck, present at birth.
• Central Nervous System Malformations: Abnormalities in the brain, such as corpus callosum agenesis and dilation of lateral ventricles.
• Cardiac Anomalies: Heart defects, including cardiomyopathy.

These clinical features can vary widely among affected individuals, even within the same family. The severity of the symptoms can also differ from person to person.

References:

• [2] - This condition is described as a rare, unconventional mitochondrial disorder that presents as a developmental disease.
• [8] - The main clinical features include microphthalmia with different degrees of severity, linear skin lesions, and central nervous system malformations.
• [7] - Mitochondrial disorders are traditionally described as conditions characterized by encephalomyopathy, hypotonia, and progressive postnatal organ failure.

Based on the provided context, here are some diagnostic tests that may be relevant for Linear Skin Defects with Multiple Congenital Anomalies 2:

• Genetic testing: Identification of a pathogenic variant in COX7B, HCCS, or NDUFB11 genes is crucial for diagnosing MLS syndrome. This can be done through various genetic testing methods such as PCR (Polymerase Chain Reaction), sequencing, and deletion/duplication analysis [2][3].
• Clinical evaluation: A comprehensive history and physical examination are essential to identify the characteristic combination of congenital anomalies associated with LSDMCA2 [13].
• Imaging studies: Imaging techniques like ultrasound, MRI, or CT scans may be used to evaluate the extent of microphthalmia, orbital cysts, corneal opacities, and other associated anomalies [9].

It's worth noting that a molecular diagnosis of MLS syndrome can be established when two major criteria (microphthalmia and/or anophthalmia and linear skin defects) are present and confirmed by identification of a pathogenic variant in COX7B, HCCS, or NDUFB11. However, persons with a molecular diagnosis of MLS syndrome in whom only one of the two major criteria was present have been reported [12].

Additionally, genetic testing for isolated genes can be added directly on the test request form, as mentioned in [5] and [7]. This may provide further information about the underlying cause of the condition.

References:

[2] - 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 (microphthalmic) [4]. [3] - A 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 [10]. [5] - You have the possibility to add isolated genes in addition to your selection, directly on the test request form. [7] - You have the possibility to add isolated genes in addition to your selection, directly on the test request form. [9] - A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia [9]. [10] - A 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 [10]. [12] - Diagnosis/testing. The clinical diagnosis is established when the two major criteria (microphthalmia and/or anophthalmia and linear skin defects) are present and confirmed by identification of a pathogenic variant in COX7B, HCCS, or NDUFB11.However, persons with a molecular diagnosis of MLS syndrome in whom only one of the two major criteria was present have been reported: some show [12]. [13] - Congenital anomalies can be isolated or present in a characteristic combination or pattern that may affect one or more organ systems. Evaluation of a child with a congenital anomaly includes a comprehensive history and physical examination. This is followed by further testing, as indicated. A general approach to evaluation is presented here [13].

Current Treatment Options for Linear Skin Defects with Multiple Congenital Anomalies 2

Linear skin defects with multiple congenital anomalies 2 (LSDMCA2) is a rare genetic disorder characterized by dermal, ocular, neurological, and cardiac abnormalities. While there is no specific cure for LSDMCA2, various treatment options are available to manage its symptoms and improve the quality of life for affected individuals.

• Genetic counseling: Genetic counseling is essential for families with a history of LSDMCA2. It helps in understanding the risk of passing on the condition to future generations and provides guidance on reproductive options.
• Symptomatic treatment: Treatment for LSDMCA2 focuses on managing its various symptoms, such as:
  • Linear skin defects: These may be treated with topical creams or ointments to promote healing and minimize scarring.
  • Ocular abnormalities: Affected individuals may require corrective eyewear, surgery, or other interventions to address issues like microphthalmia, lacrimal duct atresia, myopia, nystagmus, strabismus, and others.
  • Neurological symptoms: Seizures, hypotonia, and other neurological manifestations may be managed with anticonvulsants, physical therapy, or other interventions as needed.
  • Cardiac abnormalities: Cardiomyopathy and other cardiac issues may require medical management, including medications to control heart function.
• Supportive care: Affected individuals and their families often benefit from supportive care, such as:
  • Physical therapy to maintain mobility and strength
  • Occupational therapy to promote independence and daily living skills
  • Speech therapy to address communication needs
  • Emotional support and counseling to cope with the psychological impact of the condition

References

• [1] (4) - Mitochondrial disorders, although heterogeneous, are traditionally described as conditions characterized by encephalomyopathy, hypotonia, and progressive postnatal organ failure.
• [5] - The microphthalmia with linear skin defects (MLS) syndrome is characterized by unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects, usually involving the face and neck, which are present at birth and heal with age, leaving minimal residual scarring.
• [9] - Linear skin defects with multiple congenital anomalies 3 is a disorder with dermal, ocular, neurological, and cardiac abnormalities. Clinical features include linear skin defects on the face and neck at birth, lacrimal duct atresia, myopia, nystagmus, strabismus, cardiomyopathy, axial hypotonia, seizures, corpus callosum agenesis, and dilation of lateral ventricles.
• [12] - Clinical resource with information about Linear skin defects with multiple congenital anomalies and its clinical features, 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.

Differential Diagnosis of Linear Skin Defects with Multiple Congenital Anomalies

Linear skin defects with multiple congenital anomalies (LSDMCA) is a rare and unconventional mitochondrial disorder that presents as a developmental disease. When considering the differential diagnosis for LSDMCA, several conditions should be taken into account.

• Microphthalmia with linear skin defects syndrome: This X-linked dominant disorder is characterized by ocular defects, including microphthalmia, orbital cysts, and corneal anomalies [4]. It can also present with linear skin defects, similar to LSDMCA.
• Lichen striatus: A rare inflammatory condition that presents as a linear eruption on the skin, often accompanied by scarring [8].
• Linear lichen planus: An autoimmune disease that affects the skin and mucous membranes, characterized by a linear or polygonal distribution of lesions [8].
• Linear psoriasis: A variant of psoriasis that presents with linear or serpentine lesions on the skin [8].

Other Conditions to Consider

In addition to these conditions, other factors should be considered in the differential diagnosis for LSDMCA. These include:

• Genetic variants: Variants in genes such as HCCS and COX7B can also cause LSDMCA [5].
• Mitochondrial disorders: Although LSDMCA is a mitochondrial disorder, it is essential to consider other mitochondrial disorders that may present with similar symptoms.

Clinical Resource

For more information on LSDMCA and its clinical features, as well as available genetic tests and practice guidelines, please refer to the clinical resource provided in [12].

References:

[4] Microphthalmia with linear skin defects syndrome (MLS) is an X-linked dominant disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal ...).

[5] Oct 17, 2024 — Linear skin defects with multiple congenital anomalies (LSDMCA) can also be caused by variants in the HCCS and COX7B genes in addition to NDUFB ...

[8] Aug 12, 2015 — The differential diagnosis of linear eruptions in children includes lichen striatus, linear lichen planus, linear psoriasis, inflammatory linear verrucous ...