Evidence map›Paper›PMID 42396138›Full record

ArticleFrontiers in medicine2026

A case of Incontinentia Pigmenti associated with concurrent

Ezia Spinosa, Jeremie Rosain, Stefania Picascia, Michele Salvia, Alessandra Pescatore, Annalaura Torella, Giulio Piluso, Vincenzo Nigro, Vincenzo Piccolo, Andrea Diociaiuti and 6 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors.

Ezia SpinosaInstitute of Genetics and Biophysics "Adriano Buzzati- Traverso" IGB-CNR, Naples, Italy.
Jeremie RosainLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Stefania PicasciaInstitute of Genetics and Biophysics "Adriano Buzzati- Traverso" IGB-CNR, Naples, Italy.
Michele SalviaInstitute of Genetics and Biophysics "Adriano Buzzati- Traverso" IGB-CNR, Naples, Italy.
Alessandra PescatoreInstitute of Genetics and Biophysics "Adriano Buzzati- Traverso" IGB-CNR, Naples, Italy.
Annalaura TorellaDepartment of Precision Medicine, The University of Campania "Luigi Vanvitelli", Naples, Italy.
Giulio PilusoDepartment of Precision Medicine, The University of Campania "Luigi Vanvitelli", Naples, Italy.
Vincenzo NigroDepartment of Precision Medicine, The University of Campania "Luigi Vanvitelli", Naples, Italy.
Vincenzo PiccoloDermatology Unit, University of Campania "Luigi Vanvitelli", Naples, Italy.
Andrea DiociaiutiDermatology Unit and Genodermatosis Research Unit, Translational Paediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Immacolata Di BiaseMeriGen Diagnostic & C. SAS, Naples, Italy.
May El HachemDermatology Unit and Genodermatosis Research Unit, Translational Paediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Maria B LioiDepartment of Basic and Applied Sciences, University of Basilicata, Potenza, Italy.
Paul BastardLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.
Matilde V UrsiniInstitute of Genetics and Biophysics "Adriano Buzzati- Traverso" IGB-CNR, Naples, Italy.
Francesca FuscoInstitute of Genetics and Biophysics "Adriano Buzzati- Traverso" IGB-CNR, Naples, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Incontinentia Pigmenti (IP; OMIM#308300) and syndromic intellectual disability (ID) (MRFACD; OMIM#616789) are two genetically dominant rare diseases. Their phenotypes are characterized by distinctive clinical signs: IP is caused by skin and neuroectodermal abnormalities with highly variable expression, while MRFACD is caused by a broad range of neurologic manifestations, including ID, hypotonia, ophthalmological abnormalities, motor delay, abnormalities in cerebral magnetic resonance, and a remarkable speech delay. The two diseases have genetically different causes: IP is an X-linked disorder caused by mutations in the

Indexed as

IKBKG/NEMOimpaired intellectual development and distinctive facial features with or without cardiac defectsIncontinentia PigmentiIP mosaicismMED13L

Identifiers

PMID42396138
PMCPMC13322796

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