Research & Literature

Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.

Cunningham D, DeBarber AE, Bir N, et al.

Human molecular genetics 2015; (24(10)):2808-25 doi:10.1093/hmg/ddv042.

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.

Preiksaitiene E, Caro A, Benušienė E, et al.

American journal of medical genetics. Part A 2015; (167(6)):1342-8 doi:10.1002/ajmg.a.36999.

FR171456 is a specific inhibitor of mammalian NSDHL and yeast Erg26p.

Helliwell SB, Karkare S, Bergdoll M, et al.

Nature communications 2015; (6()):8613 doi:10.1038/ncomms9613.

CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation.

Mi XB, Luo MX, Guo LL, et al.

Pediatric dermatology 2015; (32(6)):e277-82 doi:10.1111/pde.12701.

Epidermal nevus syndromes.

Asch S, Sugarman JL

Handbook of clinical neurology 2015; (132()):291-316.

[Advance in research on congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome].

Jing F, Yang D, Chen T, Liang L

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2016; (33(6)):878-882 doi:10.3760/cma.j.issn.1003-9406.2016.06.030.

Gait biomechanics following lower extremity trauma: Amputation vs. reconstruction.

Russell Esposito E, Stinner DJ, Fergason JR, Wilken JM

Gait & posture 2017; (54()):167-173 doi:10.1016/j.gaitpost.2017.02.016.

CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol.

Yu X, Zhang J, Gu Y, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2018; (32(7)):1209-1213 doi:10.1111/jdv.14788.

CHILD syndrome: A modified pathogenesis-targeted therapeutic approach.

Bergqvist C, Abdallah B, Hasbani DJ, et al.

American journal of medical genetics. Part A 2018; (176(3)):733-738 doi:10.1002/ajmg.a.38619.

[Analysis of clinical manifestation and genetic mutation in a child with X-linked chondrodysplasia punctata 2].

Chang G, Zhou Y, Yin L, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018; (35(4)):527-530 doi:10.3760/cma.j.issn.1003-9406.2018.04.015.

NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report.

Hu CC, Sun YJ, Liu CX, et al.

BMC medical genetics 2018; (19(1)):192 doi:10.1186/s12881-018-0705-7.

Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation.

Horinouchi T, Morisada N, Uemura H, et al.

American journal of medical genetics. Part A 2019; (179(7)):1315-1318 doi:10.1002/ajmg.a.61159.

CHILD syndrome: successful treatment of skin lesions with topical lovastatin and cholesterol lotion.

Sandoval KR, Machado MCR, Oliveira ZNP, Nico MMS

Anais brasileiros de dermatologia 2019; (94(3)):341-343 doi:10.1590/abd1806-4841.20198789.

A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2.

Alzahem T, Alsalamah AK, Mura M, Alsulaiman SM

Ophthalmic genetics 2020; (41(4)):377-380 doi:10.1080/13816810.2020.1776339.

Preimplantation Genetic Testing for Monogenic Disorders.

De Rycke M, Berckmoes V

Genes 2020; (11(8)) doi:10.3390/genes11080871.

Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report.

Hettiarachchi D, Panchal H, Lai PS, Dissanayake VHW

BMC medical genetics 2020; (21(1)):164 doi:10.1186/s12881-020-01094-y.

Topical Cholesterol/Simvastatin Gel for the Treatment of CHILD Syndrome in an Adolescent.

Cho SK, Ashworth LD, Goldman S

International journal of pharmaceutical compounding 2020; (24(5)):367-369.

Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome.

Maceda EBG, Kratz LE, Ramos VME, Abacan MAR

BMJ case reports 2020; (13(11)) doi:10.1136/bcr-2020-236859.

Statins repress hedgehog signaling in medulloblastoma with no bone toxicities.

Fan Q, Gong T, Zheng C, et al.

Oncogene 2021; (40(12)):2258-2272 doi:10.1038/s41388-021-01701-z.

Deformity Correction, Surgical Stabilisation and Limb Length Equalisation in Patients with Fibrous Dysplasia: A 20-year Experience.

Hampton MJ, Weston-Simmons S, Giles SN, Fernandes JA

Strategies in trauma and limb reconstruction 2021; (16(1)):41-45 doi:10.5005/jp-journals-10080-1523.

Rapid improvement of skin lesions in CHILD syndrome with topical 5% simvastatin ointment.

Kallis P, Bisbee E, Garganta C, Schoch JJ

Pediatric dermatology 2022; (39(1)):151-152 doi:10.1111/pde.14865.

Connexin hemichannel inhibition ameliorates epidermal pathology in a mouse model of keratitis ichthyosis deafness syndrome.

Sellitto C, Li L, White TW

Scientific reports 2021; (11(1)):24118 doi:10.1038/s41598-021-03627-8.

A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.

Tan EC, Chia SY, Rafi'ee K, et al.

Molecular genetics & genomic medicine 2022; (10(1)):e1848 doi:10.1002/mgg3.1848.

Cutaneous mosaicism: Special considerations for women.

Ellis KT, Ovejero D, Choate KA

International journal of women's dermatology 2021; (7(5Part A)):539-544 doi:10.1016/j.ijwd.2021.10.004.

Structural enzymology of cholesterol biosynthesis and storage.

Long T, Debler EW, Li X

Current opinion in structural biology 2022; (74()):102369 doi:10.1016/j.sbi.2022.102369.

Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders.

Atzmony L, Ugwu N, Hamilton C, et al.

Pediatric dermatology 2022; (39(6)):903-907 doi:10.1111/pde.15094.

Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole-exome sequencing: A rare case report and literature review.

Zhuang J, Luo Q, Xie M, et al.

Molecular genetics & genomic medicine 2023; (11(3)):e2121 doi:10.1002/mgg3.2121.

Fetal Hands: A Comprehensive Review of Prenatal Assessment and Diagnosis Over the Past 40 Years.

Tonni G, Grisolia G, Bonasoni MP, et al.

Ultrasound in medicine & biology 2023; (49(3)):657-676 doi:10.1016/j.ultrasmedbio.2022.09.022.

Keratitis-ichthyosis-deafness Syndrome with Heterozygous p.D50N in the GJB2 Gene in Two Serbian Adult Patients.

Kalezić T, Vuković I, Stojković M, et al.

Balkan journal of medical genetics : BJMG 2022; (25(1)):79-84 doi:10.2478/bjmg-2022-0014.

[Possibilities of orthopedic technical care for extremity lengthening and reconstruction].

Deisenhofer J, Greitemann B, Putz C, et al.

Orthopadie (Heidelberg, Germany) 2023; (52(9)):756-766 doi:10.1007/s00132-023-04424-z.

5% Simvastatin Ointment as Treatment for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (CHILD) Syndrome in a 4-year-old Female: A Case Report.

David DMB, Chan KBT, Dayrit-Castro CAF

Acta medica Philippina 2024; (58(17)):94-99 doi:10.47895/amp.v58i17.9202.

Prenatal and preimplantation genetic testing for monogenic kidney disorders.

Knoers NVAM

Kidney international 2025; (107(2)):255-261 doi:10.1016/j.kint.2024.06.031.

Cholesterol Pathway Gene Variants and Reduced Keratinocyte Cholesterol Support a Final Common Druggable Pathway in Hyperproliferative Inflammatory Skin Diseases.

Riachi M, Bryant D, Ellis J, et al.

The Journal of investigative dermatology 2025; (145(11)):2745-2752.e7 doi:10.1016/j.jid.2025.02.157.

CHILD syndrome combined linear porokeratosis in a patient with a good response to the topical lovastatin/cholesterol ointment.

Chen K, Hu B, Chen Q, et al.

The Journal of dermatological treatment 2025; (36(1)):2478217 doi:10.1080/09546634.2025.2478217.

Adams-Oliver Syndrome: A Comprehensive Literature Review of Clinical, Nutritional, Genetic, and Molecular Aspects with Nursing Care Considerations.

Badiu Tișa I, Cozma-Petruț A, Chiorean AD, et al.

International journal of molecular sciences 2025; (27(1)) doi:10.3390/ijms27010173.

Impact of Limb Deformity Correction Surgery on Pediatric Quality of Life as Assessed by the Limb Deformity Early Onset Scoliosis Questionnaire and Limb Deformity Scoliosis Research Society Patient-Reported Outcome Measures.

Yancey MR, Canitia E, Moon TJ, et al.

Journal of the Pediatric Orthopaedic Society of North America 2026; (15()):100326 doi:10.1016/j.jposna.2026.100326.

Bilateral Involvement in CHILD Syndrome Successfully Treated With Cholesterol-Lovastatin Combination.

Zeyrek M, Balan K, Ersoy-Evans S

Pediatric dermatology 2026; doi:10.1111/pde.70247.

A patient with CHILD syndrome mimicking Hailey-Hailey disease: A diagnostic challenge.

Zhang X, Zhong Z, Wang H, et al.

Journal of the American Academy of Dermatology 2026; doi:10.1016/j.jaad.2026.08.020.

Modeling Inherited Disorders of Post-Lanosterol Cholesterol Biosynthesis: From Animal Models to Patient-Derived Stem Cells.

Akhmetzyanova E, Nasybullina E, Rizvanov A, Mukhamedshina Y

International journal of molecular sciences 2026; (27(15)) doi:10.3390/ijms27156853.