Two siblings presented with sun sensitivity and progressive dyspigmentation. A diagnosis of xeroderma pigmentosum was initially favored due to XPC mutations, although variants were not clearly diagnostic. However, new moderate neutropenia and homozygous suspected pathogenic variants in USB1 led to diagnosis of poikiloderma with neutropenia. This case highlights the importance of reevaluation of diagnosis due to significant phenotypic overlap in congenital disorders of photosensitivity with poikiloderma or dyspigmentation.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9543344 | PMC |
| http://dx.doi.org/10.1111/pde.15007 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Poikiloderma with neutropenia: a case report.
J Med Case Rep
January 2025
Department of Pediatrics, University Children Hospital, Damascus University, Damascus, Syria.
Background: Poikiloderma with neutropenia is a rare genetic disorder primarily characterized by the presence of poikiloderma and congenital chronic neutropenia. Mutations in the C16orf57 gene, which encodes the USB1 protein, are implicated as the underlying cause of poikiloderma with neutropenia.
Case Presentation: Our patient, an 11-year-old Syrian male child who presented with poikiloderma, palmoplantar keratoderma, pachyonychia, recurrent infections, and neutropenia, is considered to be the first documented case in Syria.
Exploring the landscape of congenital and idiopathic neutropenia in Moroccan children: a comprehensive retrospective analysis.
Immunol Res
January 2025
Laboratory of Clinical Immunology, Infectiology, and Autoimmunity (LICIA), Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, Morocco.
Congenital neutropenia (CoN) is a heterogeneous group of inborn errors of immunity (IEI) characterized by recurrent infections and early onset of neutropenia (NP). This study aimed to investigate the demographic and clinical data of children with CoN and idiopathic neutropenia (IN) in Morocco. We performed a retrospective study of patients with CoN and analyzed the clinical and laboratory findings of patients with CoN and IN diagnosed between 1999 and 2018 in a clinical immunology unit of a large pediatric hospital.
View Article and Find Full Text PDFHypogammaglobulinemia in a Child with Clericuzio-Type Poikiloderma with Neutropenia.
Pediatr Allergy Immunol Pulmonol
December 2024
Division of Pediatric Immunology and Allergy, Selcuk University Medical Faculty, Konya, Turkey.
Article Synopsis
- Poikiloderma with neutropenia (PN) is a rare genetic condition resulting from mutations in a specific gene, characterized by skin changes, ongoing low neutrophil levels, and recurrent respiratory infections.
- A case study of a 15-month-old boy revealed symptoms like skin hyperpigmentation, growth issues, and respiratory infections, with notable physical traits such as facial dysmorphism and widespread poikiloderma.
- Laboratory tests indicated mild neutropenia and low immunoglobulin levels, leading to treatment with immunoglobulin replacement and antibiotics, highlighting the importance of monitoring immune function in patients with recurrent infections.
Clericuzio-type poikiloderma with neutropenia and leg ulceration.
JAAD Case Rep
June 2024
Department of Dermatology, King's College Hospital, London, United Kingdom.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!