Noonan syndrome-like disorder with loose anagen hair

Noonan Syndrome-Like Disorder with Loose Anagen Hair (NSLH)

Noonan syndrome-like disorder with loose anagen hair, also known as Mazzanti syndrome, is a rare genetic disorder characterized by craniofacial features and hair abnormalities. The condition is associated with a phenotype resembling Noonan syndrome, which includes:

• Facial dysmorphia: Individuals with NSLH display facial features similar to those observed in Noonan syndrome, such as a short stature, webbed neck, and low-set ears.
• Cognitive deficits: Some individuals with NSLH may experience cognitive impairments, including learning disabilities and intellectual disability.
• Congenital heart defects: Heart problems are common in individuals with NSLH, including issues with the heart's structure or function.

Hair Abnormalities

NSLH is also characterized by hair abnormalities, including:

• Loose anagen hair: The hair on affected individuals is often loose and easy to pluck.
• Sparse and thin hair: Individuals with NSLH may experience sparse and thinning of the hair.
• Slow-growing hair: The hair growth rate in individuals with NSLH is often slower than normal.

Causes and Genetics

The disease is caused by a heterozygous mutation in the PPP1CB gene on chromosome 2p23. This genetic mutation leads to the development of NSLH, which is a RASopathy, a group of disorders characterized by mutations in genes involved in the RAS signaling pathway.

References:

• [1] Noonan-like syndrome with loose anagen hair (NSLH), also known as Mazzanti syndrome, is a RASopathy characterized by craniofacial features resembling Noonan syndrome. [1]
• [2-3] Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (163950). [2][3]
• [4] Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome. [4]
• [5-6] Noonan-like syndrome with loose anagen hair is associated with a phenotype resembling Noonan syndrome: facial dysmorphia, cognitive deficits, congenital heart defects, and pluckable, sparse, thin, and slow-growing hair. [5][6]
• [7-9] The disease is caused by a heterozygous mutation in the PPP1CB gene on chromosome 2p23. [7][8][9]

Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome, including a small head, high forehead, wide-set eyes, short neck, short stature, and low set, rotated ears [1][3][8]. These physical characteristics are often accompanied by Anagen hair loss due to abnormal anchorage of the hair shaft to the follicle [7].

In addition to these facial features, individuals with Noonan syndrome-like disorder with loose anagen hair may also experience other symptoms such as constipation, straining during bowel movements, and a sensation of incomplete evacuation [5]. Prenatal signs of NS are nonspecific and can include increased nuchal translucency, cystic hygroma, ascites, polyhydramnios, and fetal demise [6].

It's worth noting that the symptoms of Noonan syndrome-like disorder with loose anagen hair can vary in severity and may not be present in all individuals. A thorough medical evaluation by a qualified healthcare professional is necessary to confirm diagnosis.

References: [1] Context result 1 [3] Context result 3 [5] Context result 5 [6] Context result 6 [7] Context result 7 [8] Context result 8

Noonan syndrome-like disorder with loose anagen hair (NSLH) can be diagnosed through a combination of clinical presentation and molecular testing.

Clinical Presentation The diagnosis of NSLH is often suspected based on the patient's clinical features, which may include facial dysmorphia, cognitive deficits, congenital heart defects, and loose anagen hairs. A consultation and evaluation by a qualified healthcare professional are essential to confirm the diagnosis.

Molecular Testing Molecular testing can aid in the diagnosis of NSLH. The test may involve sequencing of specific genes, such as SHOC2, which is associated with the condition. According to [8], sequencing of SHOC2 will detect a pathogenic variant in ~5% of individuals with NSLH.

Diagnostic Tests While there are no specific diagnostic tests listed for NSLH, molecular testing and clinical evaluation can help confirm the diagnosis. It's essential to consult with a qualified healthcare professional for an accurate diagnosis and treatment plan.

References: [1] - [10] (citations from search results)

Treatment Options for Noonan Syndrome-Like Disorder with Loose Anagen Hair

Noonan syndrome-like disorder with loose anagen hair (NS-LAH) is a rare genetic disorder that affects the development and growth of hair. While there is no specific cure for NS-LAH, various treatment options are available to manage its symptoms.

• Recombinant Human Growth Hormone (rhGH): Studies have shown that rhGH therapy can be beneficial in treating NS-LAH patients, particularly in terms of improving final height and pubertal development [1][2]. However, it's essential to note that these patients do not exhibit the characteristic catch-up growth seen in isolated GH deficiency.
• Minoxidil Therapy: Minoxidil has been successfully used in infants with NS-LAH, showing promise as a potential treatment option for this condition [3].
• Orphan Drugs: As NS-LAH is considered a rare disease, orphan drugs specifically developed for its treatment may be available. These medications are designed to address the unique needs of patients with rare conditions like NS-LAH.
• Medical Treatment for Reflux: In some cases, medical treatment for reflux may be necessary to manage symptoms associated with NS-LAH [4].
• Surgical Interventions: Depending on individual symptoms, surgical interventions such as surgery for undescended testes in boys or optimization of cardiac function may be required.

Gentle Hairstyles and Reassurance

In addition to these medical treatments, gentle hairstyles and reassurance can also play a significant role in managing NS-LAH. As the condition may improve with age, patience and understanding are essential for patients and their families [5].

It's crucial to consult with a healthcare professional for personalized advice on treating NS-LAH.

References:

[1] P Zhou et al., A case report of Noonan syndrome-like disorder with loose anagen hair treated with recombinant human growth hormone (2020)

[2] L Mazzanti et al., GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome) (2013)

[3] JL Cantatore-Francis et al., As mentioned previously, most cases of LAHS resolve spontaneously; however, the successful use of minoxidil therapy in infants is encouraging and may be a potential treatment option (2009)

[4] by A Carcavilla et al., Noonan syndrome-like disorder with loose anagen hair ... Medical treatment for reflux should be given as needed. (2020)

[5] Treatment involves reassurance and gentle hairstyles; the condition may improve with age. View chapterExplore book.

The differential diagnosis for Noonan syndrome-like disorder with loose anagen hair (NS/LAH) includes several conditions that present similar symptoms.

• Telogen effluvium: This is a condition characterized by excessive hair shedding, which can be mistaken for the loose anagen hair seen in NS/LAH [6].
• Trichotillomania: Also known as hair-pulling disorder, this condition involves compulsive pulling of one's own hair, leading to hair loss and potentially mimicking the symptoms of NS/LAH [6].
• Cardio-Facio-Cutaneous syndrome: This is a rare genetic disorder that can present with similar facial features and developmental delays as seen in NS/LAH [5].
• Costello syndrome: Another rare genetic disorder that can share similarities with NS/LAH, including loose anagen hair and developmental delays [5].
• Neurofibromatosis type 1: A genetic disorder characterized by the growth of non-cancerous tumors on nerve tissue, which can present with similar skin and hair symptoms as seen in NS/LAH [5].

It's essential to note that a comprehensive diagnosis requires a thorough medical evaluation and genetic testing to rule out these conditions.

References: * [3] - In the pediatric population, the most common differential diagnoses include alopecia areata, telogen effluvium, androgenetic alopecia, trichotillomania, and ... * [5] - Differential diagnoses include Cardio-Facio-Cutaneous syndrome, Costello syndrome, Neurofibromatosis type 1, Noonan syndrome with multiple lentigines (all ... * [6] - The differential diagnosis includes telogen effluvium and trichotillomania. ... Loose anagen hair is also a feature of an autosomal recessive Noonan-like syndrome ...