Noonan syndrome-like disorder with loose anagen hair 1

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 resembling Noonan syndrome. The condition is associated with a range of symptoms, including:

• 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 difficulties, including learning disabilities and intellectual disability.
• Congenital heart defects: Heart problems are common in individuals with NSLH, including issues with the heart's structure and function.
• Loose anagen hair: The condition is also characterized by loose anagen hair, which is a type of hair that is easily plucked or falls out.

Causes and Genetics

NSLH is caused by a heterozygous mutation in the PPP1CB gene on chromosome 2p23. This genetic mutation affects the development and growth of cells, leading to the characteristic symptoms of the condition.

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.
• [5] Noonan-like syndrome with loose anagen hair (NSLH), also known as Mazzanti syndrome, is a RASopathy characterized by craniofacial features ...
• [8] It is associated with pluckable, sparse, thin, and slow-growing hair. The disease is caused by a heterozygous mutation in the PPP1CB gene on chromosome 2p23.
• [9] A number sign (#) is used with this entry because of evidence that Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2) is caused by heterozygous ...

Facial Features and Physical Characteristics

Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome [1]. These features include a small head, high forehead, wide-set eyes, short neck, short stature, and low-set, rotated ears [3].

• Small head size
• High forehead
• Wide-set eyes
• Short neck
• Short stature
• Low-set, rotated ears

These physical characteristics are often combined with Anagen hair loss, which is a type of hair loss that occurs when the hair follicles are in the anagen phase of growth [4].

Additional Symptoms

In addition to these facial features and physical characteristics, individuals with Noonan syndrome-like disorder with loose anagen hair may also experience other symptoms, such as:

• Constipation for longer than three months
• Straining during bowel movements
• Lumpy or hard stools
• A sensation of incomplete evacuation [5]

Prenatal Signs

In some cases, prenatal signs of NS/LAH may be present, including increased nuchal translucency, cystic hygroma, and/or ascites, which can lead to fetal demise. Polyhydramnios may also be present [6].

References: [1] Context 1 [2] Context 1 [3] Context 3 [4] Context 4 [5] Context 5 [6] Context 6

Noonan syndrome-like disorder with loose anagen hair (NSLH) is a rare genetic disorder that can be challenging to diagnose. While there are no specific diagnostic tests for NSLH, the following information can provide some insight into the diagnostic process.

Clinical Presentation and Molecular Testing Diagnosis of NSLH is suspected based on clinical presentation and confirmed by molecular testing [1]. The principal differential diagnosis includes Noonan syndrome and other conditions that may present with similar symptoms.

Genetic Tests Sequencing of SHOC2 will detect a pathogenic variant in ~5% of individuals with NS, most of which have the classic loose anagen hair [7]. This suggests that genetic testing can be a useful tool in diagnosing NSLH. However, it is essential to note that not all cases of NSLH are caused by mutations in the SHOC2 gene.

Diagnostic Methods The diagnosis of NSLH is based on a combination of features, including typical facial features, short stature, skeletal abnormalities, presence of cardiac defects, mild cognitive impairment, and loose anagen hair [9]. A consultation and evaluation with a geneticist or a specialist in medical genetics can provide a comprehensive assessment and help determine the best course of action for diagnosis.

Other Diagnostic Considerations It is also essential to consider other conditions that may present with similar symptoms, such as Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (NS-JMML) and NS-like disorder with loose anagen hair [8].

In summary, while there are no specific diagnostic tests for NSLH, a combination of clinical presentation, molecular testing, and genetic evaluation can provide a comprehensive assessment and help determine the best course of action for diagnosis.

References: [1] Context result 1 [7] Context result 7 [9] Context result 9

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 condition characterized by loose, fragile hair and other physical features. While there is no specific cure for NS-LAH, various treatment options can help manage the symptoms.

• Recombinant Human Growth Hormone (rhGH): Studies have shown that rhGH therapy can be beneficial in treating NS-LAH patients, particularly in terms of growth hormone levels and final height [1][2]. However, it's essential to note that these patients do not exhibit catch-up growth like those with isolated GH deficiency.
• Minoxidil Therapy: Minoxidil has been used successfully in infants with loose anagen hair syndrome (LAHS), a condition closely related to NS-LAH. This treatment may be beneficial for some patients, but more research is needed to confirm its effectiveness [3].
• Minimizing Hair Damage: Gentle hairstyles and reassurance can help alleviate symptoms in some cases. As the condition may improve with age, patience and careful hair care are essential [4].

Other Considerations

Treatment for NS-LAH often focuses on individual symptoms rather than a comprehensive approach. For example:

• Cardiac Function Optimization: Patients with NS-LAH may experience cardiac issues, so optimizing cardiac function is crucial.
• Surgery for Undescended Testes: In boys, surgery may be necessary to correct undescended testes.

It's essential to consult with a healthcare professional for personalized guidance on managing NS-LAH symptoms and developing an effective treatment plan.

References:

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

[2] L Mazzanti et al. (2013) - GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome) [Context 3]

[3] JL Cantatore-Francis et al. (2009) - 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 for NS-LAH [Context 8]

[4] Treatment involves reassurance and gentle hairstyles; the condition may improve with age. View chapterExplore book. [Context 9]

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 [3].
• Trichotillomania: Also known as hair-pulling disorder, this condition involves compulsive pulling of one's own hair, leading to hair loss and potentially similar symptoms to NS/LAH [6].
• Cardio-Facio-Cutaneous syndrome: This is a rare genetic disorder that can present with features such as loose anagen hair, similar to NS/LAH [4].
• Costello syndrome: Another rare genetic disorder, Costello syndrome can also present with loose anagen hair and other symptoms similar to NS/LAH [4].

It's essential to note that these conditions have distinct diagnostic criteria, and a comprehensive evaluation by a medical professional is necessary for accurate diagnosis.

References: [1] Context 1 [3] Context 3 [4] Context 4 [6] Context 6