AUTHOREA
Log in Sign Up Browse Preprints
LOG IN SIGN UP
Cathal O'Connor
Cathal O'Connor

Public Documents 5
Dupilumab for Trichothiodystrophy -- Case Report and Review of the Literature
Julia O'Mahony
Cathal O'Connor

Julia O'Mahony

and 1 more

September 15, 2025
DR JULIA O'MAHONY ORCID 0009-0004-0458-934X DR CATHAL O'CONNOR ORCID 0000-0001-7084-5293 Case Report
Think zinc: transient nutritional deficiency related to novel maternal SLC30A2 mutati...
Emma Porter
Oonagh Molloy

Emma Porter

and 3 more

January 11, 2023
We present a case of a second-born breastfed infant presenting with zinc deficiency whose mother was found to have a novel heterozygous mutation in SLC30A2. A previous baby did not have manifestations of zinc deficiency but the mother had taken a proton pump inhibitor during the second pregnancy.
Congenital urticaria pigmentosa mistaken for non-accidental injury
Emma Porter
Cynthia Heffron

Emma Porter

and 3 more

December 09, 2022
Awareness of cutaneous manifestations of non-accidental injury (NAI) is essential for healthcare professionals working with children. Some cutaneous conditions may present with bruise-like lesions that can mimic NAI. We present the case of a male infant referred for investigation of NAI, who was subsequently diagnosed with cutaneous mastocytosis.
Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
Lisa Kiely
Sarah NĂ­ Mhaolcatha

Lisa Kiely

and 4 more

February 20, 2022
Porokeratotic adnexal ostial nevus (PAON) is a term encompassing porokeratotic eccrine ostial and dermal duct naevus (PEODDN) and porokeratotic eccrine and hair follicle naevus (PEHFN). We present the case of a seven-year-old girl who presented with hyperkeratotic verrucous papules in a blaschkolinear distribution on the sole of her left foot.
Eruptive acral lentiginosis following chemotherapy for acute lymphoblastic leukaemia:...
Cathal O'Connor
Clodagh Ryan

Cathal O'Connor

and 2 more

April 21, 2021
Lentigines are brown macules which represent increased proliferation of melanocytes at the dermo-epidermal junction. We report three cases of acral lentiginosis in children following chemotherapy for acute lymphoblastic leukaemia (ALL) which have persisted following cessation of chemotherapy, despite avid photoprotection.

| Powered by Authorea.com

  • Home