Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

What's new with common genetic skin disorders?

Minerva pediatrica - 1 Aug 2017

Ma Janice E, Hand Jennifer L

Abstract excerpt

Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Drug Design
Share to Molecular Diagnostic Techniques
Share to Molecular Targeted Therapy

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Skin Diseases, Genetic

Source

Identifiers

PMID: 28425690
DOI: 10.23736/S0026-4946.17.04925-8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

What's new with common genetic skin disorders?PMID 28425690Read ↗

Inherited ichthyoses/generalized Mendelian disorders of cornification.Semantic proximity Read ↗

Mosaic abnormalities of the skin: review and guidelines from the European Reference Network for rare skin diseasesSemantic proximity Read ↗

S1 guidelines for the diagnosis and treatment of ichthyoses - update.Semantic proximity Read ↗

Epidermal nevus syndromes: New insights into whorls and swirls.Semantic proximity Read ↗

Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.Semantic proximity Read ↗

Neurocutaneous Diseases: Diagnosis, Management, and TreatmentSemantic proximity Read ↗

Dermatological manifestations, management, and care in RASopathies.Semantic proximity Read ↗

Cutaneous Manifestations in Costello Syndrome: From Atopic Dermatitis to Cutaneous PapillomaSemantic proximity Read ↗

Monogenic human skin disorders.Semantic proximity Read ↗

Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.Semantic proximity Read ↗

Epidermal nevus syndromes.Semantic proximity Read ↗

Recent advances in understanding ichthyosis pathogenesisSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.