Notably, treatment with acitretin has significantly improvedboth the ichthyosis linearis circumflexa and eczema in our patient.
📌 3 Maddede Bu Makale
🎯
Amaç & Hipotez:Netherton syndrome (NS, MIM256500) is an autosomal recessive disorderthat includes ichthyosis linearis circumflexa and a predisposition to allergies,asthma, and eczema, with hypereosinophilia, trichorrhexis invaginata, andelevated serum IgE levels.
📊
Temel Bulgular & Veri:The genetic bases of Netherton syndrome aremutations in the gene SPINK5, and the Lymphoepitheial Kazal type relatedinhibitor, a serine protease inhibitor, is encoded by SPINK.Here a case is presented which showed a probable splice site mutation inSPINK5, which was previously unknown in databases and the literature, topoint out the misdiagnosis of Hyper IgE Syndrome in the early presentationof the phenotype.
💡
Sonuç & Katkı:Notably, treatment with acitretin has significantly improvedboth the ichthyosis linearis circumflexa and eczema in our patient.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri
Özet
Netherton syndrome (NS, MIM256500) is an autosomal recessive disorderthat includes ichthyosis linearis circumflexa and a predisposition to allergies,asthma, and eczema, with hypereosinophilia, trichorrhexis invaginata, andelevated serum IgE levels. The genetic bases of Netherton syndrome aremutations in the gene SPINK5, and the Lymphoepitheial Kazal type relatedinhibitor, a serine protease inhibitor, is encoded by SPINK.Here a case is presented which showed a probable splice site mutation inSPINK5, which was previously unknown in databases and the literature, topoint out the misdiagnosis of Hyper IgE Syndrome in the early presentationof the phenotype. This case highlights that a genetic test can be criticalfor identifying NS. The finding of underlying mutations contributes to theunderstanding of Netherton syndrome and is instrumental in indicating aspecific therapy. Notably, treatment with acitretin has significantly improvedboth the ichthyosis linearis circumflexa and eczema in our patient.
🔖
Bu Makaleye Atıf Yap
ÖZYURT, K., ATASOY, M., ERTAŞ, R., ULAŞ, Y., AKKUŞ, M. R., KİRAZ, A., HENNİES, H. C. (2019). Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C. Turkish Journal of Pediatrics, Cilt: 61 - Sayı: 4, 604–607. https://ajindex.com/articles/412100
Chavanas S, Bodemer C, Rochat A, et al. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 2000; 25: 141-142
Arjona Aguilera C, Albarrán Planelles C, Tercedor Sánchez J. Differential diagnosis of genetic disorders associated with moderate to severe refractory eczema and elevated immunoglobulin E. Actas Dermosifiliogr 2016; 107: 116-124
Williams KW, Milner JD, Freeman AF. Eosinophilia associated with disorders of immune deficiency or immune dysregulation. Immunol Allergy Clin North Am 2015; 35: 523-544
Piirilä H, Väliaho J, Vihinen M. Immunodeficiency mutation databases (IDbases). Hum Mutat 2006; 27: 1200-1208
Sprecher E, Chavanas S, DiGiovanna JJ, et al. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. J Invest Dermatol 2001; 117: 179-187
Sarri CA, Roussaki-Schulze A, Vasilopoulos Y, et al. Netherton syndrome: A genotype-phenotype review. Mol Diagn Ther 2017; 21: 137-152
Hernández-Martín A, González-Sarmiento R. Recent advances in congenital ichthyoses. Curr Opin Pediatr 2015; 27: 473-479
Suga Y, Tsuboi R, Hashimoto Y, Yoshiike T, Ogawa H. A case of ichthyosis linearis circumflexa successfully treated with topical tacrolimus. J Am Acad Dermatol 2000; 42: 520-522
Kumar P, Gharami RC, Mondal A, Ghosh K. Ichthyosis linearis circumflexa. Indian Pediatr 2010; 47: 1052
Guerra L, Fortugno P, Pedicelli C, et al. Ichthyosis linearis circumflexa as the only clinical manifestation of Netherton syndrome. Acta Derm Venereol 2015; 95: 720-724.