Onychoheterotopia in children

Ferrari, Marco; Mazzarello, Vittorio; Barbi, Egidio

doi:10.4081/dr.2021.9068

Dermatol Reports

2021

DOI: 10.4081/dr.2021.9068

|View full text |Cite

Onychoheterotopia in children

Marco Ferrari

Vittorio Mazzarello

Egidio Barbi

Abstract: The ectopic nail (EN) is an additional nail located in an abnormal site. It belongs to the onycho-heterotopia, a rare condition whose pathogenesis is indeterminate. This article illustrates the clinical-morphological and dermoscopic points of view, the diagnostic criteria, the possible pathogenesis, and surgical treatment of this pediatric onychoheterotopia.

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2024

Publication Types

Select...

Article1

Relationship

Self Cite0

Independent1

Authors

Journals

Cited by 1 publication

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz‐Isidor Syndrome

Feresin,

Spedicati,

Zampieri

et al. 2024

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Alteration in the ubiquitin‐proteasome system results in human disorders with neurological and/or autoinflammatory presentation. Haploinsufficiency of PSMD12, which encodes a subunit of the core component of the proteasome, causes Stankiewicz‐Isidor syndrome (STISS), characterized by intellectual disability, autism spectrum disorder, craniofacial dysmorphisms, with or without other congenital anomalies, and autoinflammation. We described six patients (four adults) from two unrelated families carrying a known p.(Arg289*) or a novel p.(Tyr111*) PSMD12 variant. Portraying a completely penetrant condition with inter‐ and intra‐familiar clinical variability, all individuals presented with developmental delay, intellectual disability, craniofacial, and skeletal anomalies. Novel findings in our cohort included unilateral ectopic fingernail, cholesteatoma, oligodontia, and the occurrence of an ovarian teratoma. Most subjects had acne, short stature, and developed obesity since late childhood. Eating behavior was reported. Good sociality and behavioral concern emerged as well. None presented clinical manifestations of autoinflammation and the detected IFN‐I signature perturbations were not specific. Together with a complete literature review, we expanded the clinical spectrum of STISS, highlighting the relevance of inherited variants, and discussing challenges in diagnosis and management. We finally consider the intriguing role of PSMD12 in human development and propose to index “onychoheterotopia” among the Human Phenotype Ontology terms.

show abstract

Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz‐Isidor Syndrome

Feresin,

Spedicati,

Zampieri

et al. 2024

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Onychoheterotopia in children

Cited by 1 publication

References 9 publications

Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz‐Isidor Syndrome

Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz‐Isidor Syndrome

Contact Info

Product

Resources

About