1.A Case of Netherton Syndrome Responsive to 1% Topical Pimecrolimus Cream.
Hemin LEE ; Jung U SHIN ; Kwang Hoon LEE
Korean Journal of Dermatology 2014;52(12):926-927
No abstract available.
Netherton Syndrome*
2.Netherton syndrome in a 1-year-old Filipino female
Loren Ann C. Magpantay ; Emmerson Gale S. Vista ; Camille Faye R. Tuazon ; Anne Irene C. Zuniga‑Baylon
Journal of the Philippine Dermatological Society 2023;32(2):111-114
Netherton syndrome (NS) is an autosomal recessive genodermatosis characterized by cutaneous and
systemic complications (recurrent infections, dehydration, and sepsis). This highlights the urgency of
making an accurate diagnosis, especially in infants and children. However, it is important to note that the
recognition of NS is usually delayed due to its rarity and similarity to cutaneous disorders with atopiform,
erythrodermic, and ichthyosiform presentations. We report a case of a 1-year-old female who was previously
diagnosed with a case of infantile psoriasis and was subsequently treated with topical emollients. However,
after months of surveillance, the patient developed feeding problems, failure to thrive, recurrent diarrhea,
upper respiratory tract, and gastrointestinal infection, leading to repeated hospitalizations. The patient
then underwent further clinical examinations and laboratory analysis, which revealed abnormal hair shaft
findings, elevated immunoglobulin (Ig) E levels, and normal chromosomal analysis. Multispecialty referrals
with other services were done to address the current problems and ensure holistic care for the patient. On
her last admission, the patient was given three doses of intravenous Ig therapy with noted improvement
in lesion presentation without any systemic symptoms.
Netherton Syndrome
3.A severe case of netherton syndrome in a Filipino child
Roland Joseph D. Tan ; Faith B. Kishi-Generao
Acta Medica Philippina 2023;57(1):68-73
Objective:
To present a rare case of Netherton Syndrome (NS) in a Filipino child.
Case:
This is a case of an 11-year-old girl with elevated immunoglobulin E, trichorrhexis nodosa, and ichthyosis linearis circumflexa. She had dry skin with fine scaling at birth with recurrent pruritic, erythematous papules coalescing to plaques mainly on the face and extensors. The skin dryness turned to generalized redness with fine scaling, and the skin started getting tight. She could no longer completely extend both knees, but she was still able to walk. She also started having difficulty closing both eyes. She developed migratory serpiginous erythematous plaques with peripheral double-edged scaling. At six years old, she developed ulcers in the scalp, trunk, and extremities, which resulted in admission to our institution. She was managed for multiple skin infections, pneumonia, sepsis, seizure, severe malnutrition, joint contracture, atopy, and bilateral cicatricial ectropion.
Conclusion
Management of NS remains challenging. Common management options include emollients, topical corticosteroids, calcineurin, and protease inhibitor, and phototherapy while newer ones that need further validation include intravenous immunoglobulins and biologics such as infliximab. However, until specific recommendations are made, overall management for NS remains challenging. Regular multidisciplinary monitoring of the manifestations of NS is central to its management.
Netherton syndrome
;
ichthyosis
;
trichorrhexis nodosa
;
atopy
4.A case of neonatal Netherton syndrome.
Yan ZHU ; Si-Yuan JIANG ; Rong ZHANG ; Yun CAO ; Shu-Lian ZHANG
Chinese Journal of Contemporary Pediatrics 2024;26(1):103-106
A male infant, aged 6 days, was admitted to the hospital due to respiratory distress and systemic desquamative rash after birth. The infant presented with erythema and desquamative rash, respiratory failure, recurrent infections, chronic diarrhea, hypernatremic dehydration, and growth retardation. Comprehensive treatment, including anti-infection therapy, intravenous immunoglobulin administration, and skin care, resulted in improvement of the rash, but recurrent infections persisted. Second-generation sequencing revealed a homozygous mutation in the SPINK5 gene, consistent with the pathogenic variation of Netherton syndrome. The family opted for palliative care, and the infant died at the age of 2 months after discharge. This report documents a case of Netherton syndrome caused by the SPINK5 gene mutation in the neonatal period, and highlights multidisciplinary diagnosis and therapy for this condition.
Infant
;
Infant, Newborn
;
Humans
;
Male
;
Netherton Syndrome/genetics*
;
Reinfection
;
Dyspnea
;
Exanthema
;
Homozygote
5.Netherton Syndrome in Two Sisters.
So Young KIM ; Myung Hwa KIM ; Hae Young CHOI ; Ki Bum MYUNG
Korean Journal of Dermatology 2005;43(3):379-382
Netherton Syndrome is a rare autosomal recessive inherited disorder, characterized by triad of congenital ichthyosiform dermatosis, trichorrhexis invaginata and atopy diathesis. It has been found to be due to mutations in SPINK5, a gene encoding LEKTI (lympho-epithelial Kazal-type related inhibitor). LEKTI is a serine proteinase inhibitor that is expressed in epithelial and lymphoid tissues, and may be important in the keratinocyte terminal differentiation and T and B cell maturation. We herein report two cases of Netherton Syndrome in sisters who had ichthyosis linearis circumflexa, trichorrhexis invaginata and atropic dermatitis.
Dermatitis
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Disease Susceptibility
;
Genes, vif
;
Humans
;
Ichthyosis
;
Keratinocytes
;
Lymphoid Tissue
;
Netherton Syndrome*
;
Serine Proteases
;
Siblings*
;
Skin Diseases