Netherton Syndrome: A Case Report and Review of Literature

Saleem, Hafiz M. Kashif; Shahid, Muhammad; Shahbaz, Amir; Sohail, Atif; Shahid, Muhammad Hassaan; Sachmechi, Issac

doi:10.7759/cureus.3070

Cited by 26 publications

(32 citation statements)

References 13 publications

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“…However, in our case because of the high cost of performing his parents refused for genetic testing, but with typical clinical triad it wasn't necessary for diagnosis. A similar case of Netherton syndrome was reported by Saleem et al at 2018 in a two-year-old boy with intractable skin manifestations, multiple food allergies, initially treated as atopic dermatitis too (12).…”

Section: Case Presentationsupporting

confidence: 72%

Netherton Syndrome: A Case Report With Literature Review

et al. 2019

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Introduction: Netherton Syndrome (NS) is a rare hereditary autosomal recessive disorder with ichthyosiform cutaneous lesions, specific hair shaft defect and atopic diathesis. The incidence of Netherton syndrome is estimated to be approximately 1 in 200,000. The objective of this case report is to illustrate the Netherton Syndrome in a patient with severe eczema atopic dermatitislike eruption. Case presentation: A 41-month old boy referred to the clinic of Allergy and Immunology, Hazrat Rasoul Hospital with generalized erythema and scaling cutaneous lesions. The patient underwent clinical examinations and laboratory analysis. Laboratory data revealed only an elevated IgE level, leukocyte count was 7800/μl with 10% eosinophil, and his hair shaft indicated classic trichorrhexis invaginata (Bamboo hair). Based on the clinical and laboratory findings, N.S was diagnosed. A brief review was also done related to this case. Conclusion: The case was reported because of the severity of the disorder and other differential diagnoses in severe and refractory atopic dermatitis-like eruptions. The importance of the case is related to other differential diagnoses, especially with early onset disorders at neonatal age.

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Section: Case Presentationsupporting

confidence: 72%

Netherton Syndrome: A Case Report With Literature Review

et al. 2019

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“…Once there is a clinical suspicion of NS, more definitive confirmation may be sought through hair microscopy, skin biopsy or DNA sequencing. DNA sequencing is used to identify germline mutations in the SPINK5 gene, which will support the diagnosis [6]. The SPINK5 gene normally encodes the protein kinase lymphoepithelial Kazal-type inhibitor, known as LEKTI [1].…”

Section: Discussionmentioning

confidence: 99%

Netherton’s Syndrome: A Case of Two Male Siblings Diagnosed in Adulthood

Flora

Smith

2020

Case Rep Dermatol

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Netherton's syndrome (NS) is a rare autosomal recessive genetic disease caused by a germline mutation in the SPINK5 gene. It is most commonly diagnosed in neonates due to the presence of congenital ichthyosiform erythroderma. Affected individuals will typically also develop a hair shaft abnormality known as trichorrhexis invaginata, severe atopy, and a migratory rash known as ichythyosis linearis circumflexa. The chronicity and severity of NS adversely affects a patient's quality of life to a large extent. It Is therefore important that this condition is identified early, and treatment to reduce cutaneous inflammation is initiated in a timely fashion. However, due to this condition being relatively rare, a lack of awareness may lead clinicians to misdiagnose it as atopic dermatitis or undifferentiated psoriasis. Clinicians should therefore be aware of the peripheral stigmata that this disease may present as in adulthood, so that a correct diagnosis can be made if it was previously missed. Here we present a case of two male siblings from Jordon who were misdiagnosed since childhood as having erythrodermic psoriasis. Clinical examination of one of the siblings, as an adult, revealed multiple peripheral features associated with NS. Genetic analysis through sanger sequencing was also able to identify a mutation in the SPINK5 gene, confirming the diagnosis.

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“…TI is a pathognomonic finding of Netherton syndrome, a rare autosomal recessive condition caused by mutations in the SPINK5 gene. Netherton syndrome is characterized by a triad of congenital ichthyosiform erythroderma (CIE) or ichthyosis linearis circumflexa (ILC), atopic diathesis (elevated serum IgE), and short sparse fragile hair with trichorrhexis invaginata [49].…”

Section: Trichorrhexis Invaginatamentioning

confidence: 99%

“…Hair improves with aging, but the eyebrows usually exhibit some hairs with the abnormality and should be checked for diagnosis [50]. Trichoscopy allows fast diagnosis of this condition as the affected hairs might be difficult to detect, as only 20-50% of hair is affected [49]. Other hair findings in patients with Netherton syndrome may resemble pili torti-like, trichorrhexis nodosa-like, and helical hairs [51].…”

Section: Trichorrhexis Invaginatamentioning

confidence: 99%

Genetic Hair Disorders: A Review

Ahmed

Almohanna

Griggs

et al. 2019

Dermatol Ther (Heidelb)

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Hair loss in early childhood represents a broad differential diagnosis which can be a diagnostic and therapeutic challenge for a physician. It is important to consider the diagnosis of a genetic hair disorder. Genetic hair disorders are a large group of inherited disorders, many of which are rare. Genetic hair abnormalities in children can be an isolated phenomenon or part of genetic syndromes. Hair changes may be a significant finding or even the initial presentation of a syndrome giving a clue to the diagnosis, such as Netherton syndrome and trichothiodystrophy. Detailed history including family history and physical examination of hair and other ectodermal structures such as nails, sweat glands, and sebaceous glands with the use of dermoscopic devices and biopsy all provide important clues to establish the correct diagnosis. Understanding the pathophysiology of genetic hair defects will allow for better comprehension of their treatment and prognosis. For example, in patients with an isolated hair defect, the main problem is aesthetic. In contrast, when the hair defect is associated with a syndrome, the prognosis will depend mainly on the associated condition. Treatment of many genetic hair disorders is focused on treating the primary cause and minimizing trauma to the hair.

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Netherton Syndrome: A Case Report and Review of Literature

Cited by 26 publications

References 13 publications

Netherton Syndrome: A Case Report With Literature Review

Netherton Syndrome: A Case Report With Literature Review

Netherton’s Syndrome: A Case of Two Male Siblings Diagnosed in Adulthood

Genetic Hair Disorders: A Review

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