Síndrome de Netherton com 20 anos de acompanhamento

Duquia, Rodrigo Pereira; Almeida, Hiram Larangeira de; Souza, Paulo Ricardo Martins; Vettorato, Gérson

doi:10.1590/s0365-05962006000600008

Cited by 2 publications

(1 citation statement)

References 12 publications

(13 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Caution with topical corticosteroids is advised, as they carry a risk of increased systemic absorption due to skin barrier defects [5]. Oral acitretin has also been demonstrated to improve cutaneous lesions and foster hair growth in regions of alopecia associated with the disease [9]. Furthermore, psoralen UVA therapy may lead to improvement of cutaneous lesions [10].…”

Section: Discussionmentioning

confidence: 99%

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

Flora

Smith

2020

Case Rep Dermatol

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 99%