[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"doc-detail-45370-en":3,"doc-seo-45370-105":28,"detail-sidebar-cat-0-en-105":89},{"code":4,"msg":5,"data":6},0,"success",{"doc_id":7,"user_id":8,"nickname":9,"user_avatar":10,"doc_module":4,"category_id":11,"category_name":12,"doc_title":13,"doc_description":14,"doc_content":15,"file_id":16,"file_url":17,"file_type":18,"file_size":19,"view_count":20,"is_deleted":4,"is_public":20,"is_downloadable":20,"audit_status":20,"page_count":20,"language":21,"language_code":22,"site_id":23,"html_lang":22,"table_of_contents":24,"faqs":25,"seo_title":13,"seo_description":14,"update_tm":26,"read_time":27},45370,1099513958762,"Logic","https://ap-avatar.wpscdn.com/avatar/1000023916a998db790?x-image-process=image/resize,m_fixed,w_180,h_180&k=1782109480056885918",7,"Healthcare","Netherton Syndrome: A Diagnostic and Therapeutic Challenge","A 7-year-old girl with a recalcitrant, recurrent, pruritic dermatosis beginning at birth presented with erythematous squamous plaques featuring double-edged desquamation with polycyclic/serpiginous borders, eyebrow lateral loss, and thin brittle occipital hair. Trichoscopy and light microscopy confirmed trichorrhexis invaginata; biopsy showed hyperkeratosis, acanthosis, focal hypergranulosis, and superficial lymphocytic infiltrate. Elevated IgE and eosinophilia supported Netherton syndrome. Treatment selection was complicated by impaired skin barrier absorption, prompting anti-inflammatory, antihistamine, emollient, and referral for allergy/genetics.","3755  \nNetherton syndrome: A diagnostic and therapeutic challenge  \nJuana Irma Garza, MD, Universitario ‘‘Dr Jos Eleuterio Gonzlez,’’ Universidad Autn, Monterrey, Mexico; Maira Elizabeth Herz-Ruelas, MD, Hospital Universitario ‘‘Dr Jos Eleuterio Gonzlez,’’ Universidad Autnoma de Nuevo Leo􀀁 n, Monterrey, Mexico; Guillermo Antonio Guerrero-Gonzlez, MD, Universitario ‘‘Dr Joslez,’’ Universidad Aut Leo􀀁 n, Monterrey, Mexico; Alejandra Villarreal-Martnez, MD, Universitario ‘‘Dr Joslez,’’ Universidad Autn, Monterrey, Mexico; Minerva Go􀀁 mez-Flores, MD, Universitario ‘‘Dr Jos Eleuterio Gonzlez,’’Universidad Autn, Monterrey, Mexico; Jorge OcampoCandiani, MD, private practice, Monterrey, Mexico  \nA 7-year-old girl presented to our clinic with a recalcitrant dermatosis. The mother referred that she began at birth with scalp involvement. She later developed chronic, recurrent and pruritic skin lesions. On dermatologic examination the patient exhibited erythematous and squamous plaques with double-edged desquamation showing polycyclic and serpiginous borders. Loss of the lateral third of eyebrows was noted along with thin and brittle hair, predominantly on the occipital region. Dermoscopy of eyebrows revealed bamboo, golf tee, and matchstick hairs. Trichoscopy of occipital region showed trichorrhexis invaginata which was confirmed under light microscopy. A skin biopsy showed hyperkeratosis, acanthosis, focal hypergranulosis and superficial perivascular lymphocytic infiltrate. Laboratory results showed elevated IgE levels and eosinophilia. With these findings diagnosis of Netherton syndrome was made. Mild-potency corticosteroids, oral antihistamines and emollients were indicated. Narrowband UVB phototherapy was considered, but the patient lived in a rural community and transportation to the hospital was troublesome. The patient was referred to the Allergy and Genetics Departments for consultation. Netherton syndrome (NS) is a rare genodermatosis, with estimated incidence of 1/200,000 newborns. The pattern of inheritance is autosomal recessive and its genetic defect is located in the SPINK5 gene that encodes a protein serase inhibitor LEKTI (lymphoepithelial Kazal-type related inhibitor) . The clinical presentation of Netherton syndrome is characterized by the triad of ichthyosis linearis circumflexa, hair shaft defects, particularly trichorrhexisinvaginata, and atopic diathesis. Ichthyosis linearis circumflexa is the pathognomonic cutaneous finding; it usually developsin early childhood, and can be mistaken for atopic dermatitis, delaying diagnosis. These patients can present at birth congenital erythroderma and they may also develop frequent infections, food allergies, hypoalbuminemia, aminoaciduria, mental and growth retardation as well as immunologic abnormalities, such as elevated IgE serum levels. Treatment represents a challenge due to percutaneous absorption of corticosteroids and calcineurin inhibitors secondary to alterations in skin barrier. Other available treatments are topical emollients, topical and systemic retinoids, keratolytics, and phototherapy.  \nCommercial support: None identified.  \n3800  \nPiezogenic papules, the key to the diagnosis of Ehlers-Danlos syndrome Eugenia Cutillas-Marco, MD, Hospital de la Vega Lorenzo Guirao, Cieza, Spain  \nBackground: Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of connective tissue disorders caused by defects in the collagen meshwork. The general features of EDS include hyperextensible and fragile skin and loose-jointedness.  \nCase report: We present the case of a 6-year-old girl, adopted with his 1-year-old brother, who presented to our clinic with a history of easy bruising after minimal traumas since the first months of her life. These normal traumas of childhood resulted in wounds that took a long time to heal and resulted in atrophic scars with agaping ‘‘fish-mouth’’ appearance. She presented fleshy nodules on her legs that histologically corresponded to tr","cbCaidTnECCpD9S1","https://ap.wps.com/l/cbCaidTnECCpD9S1","pdf",43675,1,"English","en",105,"# Clinical presentation and diagnosis\n## Dermatologic and microscopic findings\n## Laboratory workup and confirmation\n# Management considerations\n## Topical/systemic therapy\n## Phototherapy limitations and referrals","[{\"question\":\"What early features suggested Netherton syndrome in the case?\",\"answer\":\"The disease began at birth with scalp involvement, followed by chronic recurrent pruritic lesions, eyebrow lateral loss, and thin brittle hair mainly in the occipital region.\"},{\"question\":\"How was the diagnosis confirmed?\",\"answer\":\"Dermoscopy and trichoscopy demonstrated characteristic hair changes, and light microscopy confirmed trichorrhexis invaginata. Skin biopsy and elevated IgE/eosinophilia supported the diagnosis.\"},{\"question\":\"Why was treatment challenging and what options were discussed?\",\"answer\":\"Percutaneous absorption of corticosteroids and calcineurin inhibitors was a concern due to skin barrier alterations. Mild-potency corticosteroids, oral antihistamines, emollients were used, and narrowband UVB was considered but limited by transportation.\"}]",1783458711,3,{"code":4,"msg":29,"data":30},"ok",{"site_id":23,"language":22,"slug":31,"title":13,"keywords":32,"description":14,"schema_data":33,"social_meta":84,"head_meta":86,"extra_data":88,"updated_unix":26},"netherton-syndrome-a-diagnostic-and-therapeutic-challenge","",{"@graph":34,"@context":83},[35,51,66],{"@type":36,"itemListElement":37},"BreadcrumbList",[38,42,46,48],{"item":39,"name":40,"@type":41,"position":20},"https://docshare.wps.com","Home","ListItem",{"item":43,"name":44,"@type":41,"position":45},"https://docshare.wps.com/document/","Document",2,{"item":47,"name":12,"@type":41,"position":27},"https://docshare.wps.com/document/healthcare/",{"item":49,"name":13,"@type":41,"position":50},"https://docshare.wps.com/document/netherton-syndrome-a-diagnostic-and-therapeutic-challenge/45370/",4,{"url":49,"name":13,"@type":52,"author":53,"headline":13,"publisher":55,"fileFormat":58,"inLanguage":22,"description":14,"dateModified":59,"datePublished":60,"encodingFormat":58,"isAccessibleForFree":61,"interactionStatistic":62},"DigitalDocument",{"name":9,"@type":54},"Person",{"url":39,"name":56,"@type":57},"DocShare","Organization","application/pdf","2026-07-13","2026-07-07",true,{"@type":63,"interactionType":64,"userInteractionCount":20},"InteractionCounter",{"@type":65},"ViewAction",{"@type":67,"mainEntity":68},"FAQPage",[69,75,79],{"name":70,"@type":71,"acceptedAnswer":72},"What early features suggested Netherton syndrome in the case?","Question",{"text":73,"@type":74},"The disease began at birth with scalp involvement, followed by chronic recurrent pruritic lesions, eyebrow lateral loss, and thin brittle hair mainly in the occipital region.","Answer",{"name":76,"@type":71,"acceptedAnswer":77},"How was the diagnosis confirmed?",{"text":78,"@type":74},"Dermoscopy and trichoscopy demonstrated characteristic hair changes, and light microscopy confirmed trichorrhexis invaginata. Skin biopsy and elevated IgE/eosinophilia supported the diagnosis.",{"name":80,"@type":71,"acceptedAnswer":81},"Why was treatment challenging and what options were discussed?",{"text":82,"@type":74},"Percutaneous absorption of corticosteroids and calcineurin inhibitors was a concern due to skin barrier alterations. Mild-potency corticosteroids, oral antihistamines, emollients were used, and narrowband UVB was considered but limited by transportation.","https://schema.org",{"og:url":49,"og:type":85,"og:title":13,"og:site_name":56,"og:description":14},"article",{"robots":87,"canonical":49},"index,follow",{"doc_id":7,"site_id":23},{"code":4,"msg":5,"data":90},[91,95,99,103,108,113,116,121,126,129,133],{"id":20,"doc_module":4,"doc_module_name":44,"category_name":92,"show_sort_weight":93,"slug":94},"Story & Novel",90,"story-novel",{"id":45,"doc_module":4,"doc_module_name":44,"category_name":96,"show_sort_weight":97,"slug":98},"Literature",80,"literature",{"id":50,"doc_module":4,"doc_module_name":44,"category_name":100,"show_sort_weight":101,"slug":102},"Exam",70,"exam",{"id":104,"doc_module":4,"doc_module_name":44,"category_name":105,"show_sort_weight":106,"slug":107},5,"Comic",60,"comic",{"id":109,"doc_module":4,"doc_module_name":44,"category_name":110,"show_sort_weight":111,"slug":112},6,"Technology",50,"technology",{"id":11,"doc_module":4,"doc_module_name":44,"category_name":12,"show_sort_weight":114,"slug":115},40,"healthcare",{"id":117,"doc_module":4,"doc_module_name":44,"category_name":118,"show_sort_weight":119,"slug":120},8,"Research & Report",30,"research-report",{"id":122,"doc_module":4,"doc_module_name":44,"category_name":123,"show_sort_weight":124,"slug":125},9,"Religion & Spirituality",20,"religion-spirituality",{"id":124,"doc_module":4,"doc_module_name":44,"category_name":127,"show_sort_weight":124,"slug":128},"World Cup","world-cup",{"id":130,"doc_module":4,"doc_module_name":44,"category_name":131,"show_sort_weight":130,"slug":132},10,"Lifestyle","lifestyle",{"id":134,"doc_module":4,"doc_module_name":44,"category_name":135,"show_sort_weight":104,"slug":136},19,"General","general"]