Acquired ichthyosis: a clinical review
AbstractAcquired ichthyosis (AI) is a rare, nonhereditary cutaneous disorder that has been associated with numerous neoplastic, infectious, drugs, endocrine, metabolic, autoimmune, and malabsorptive diseases. Review all demographical, clinical, histological, and therapeutic features of AI and focus on all reported associated diseases. We performed a systematic literature review in Pubmed/Medline, Embase, and Cochrane collaboration databases, searching for all articles on AI, with no limits on publication date, participant age, sex or nationality. Eighty-four articles were included. Total number of included patients was 167...
Source: Archives of Dermatological Research - July 9, 2023 Category: Dermatology Source Type: research

Finding treatments to reduce scaling in ichthyosis
Br J Dermatol. 2023 Jul 7;189(1):e32. doi: 10.1093/bjd/ljad177.NO ABSTRACTPMID:37418647 | DOI:10.1093/bjd/ljad177 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - July 7, 2023 Category: Dermatology Source Type: research

Finding treatments to reduce scaling in ichthyosis
Br J Dermatol. 2023 Jul 7;189(1):e32. doi: 10.1093/bjd/ljad177.NO ABSTRACTPMID:37418647 | DOI:10.1093/bjd/ljad177 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - July 7, 2023 Category: Dermatology Source Type: research

Information provision to caregivers of children with rare dermatological disorders: an international multimethod qualitative study
Conclusion Our findings provide a novel insight into how existing gaps between caregiver expectations and needs, in terms of information support, can be addressed. As information support is a modifiable factor, improved healthcare education around these themes should become an urgent public health matter to inform future educational and psychosocial interventions. (Source: BMJ Open)
Source: BMJ Open - July 7, 2023 Category: General Medicine Authors: Walsh, C., Leavey, G., McLaughlin, M. Tags: Open access, Dermatology Source Type: research

A novel mutation compounded with a known mutation in TGM1 associated with severe lamellar ichthyosis and intellectual disability
(Source: European Journal of Dermatology)
Source: European Journal of Dermatology - July 1, 2023 Category: Dermatology Source Type: research

Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant
We report a newborn patient with trichothiodystrophy-3 (TTD3) caused by a novel homozygous variant in the GTF2H5 gene. His severe phenotype included congenital ichthyosis, complex posterior cranial fossa anomaly, life-threatening infections, bilateral cryptorchidism, and, notably, a complex cardiac malformation, which is unprecedented in TTD3 patients.PMID:37356817 | DOI:10.1111/cge.14396 (Source: Clinical Genetics)
Source: Clinical Genetics - June 25, 2023 Category: Genetics & Stem Cells Authors: Ugo Sorrentino Caterina Agosto Franca Benini Cinzia Bertolin Matteo Cassina Luca Bonadies Francesca Caroppo Anna Belloni Fortina Leonardo Salviati Source Type: research

Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant
We report a newborn patient with trichothiodystrophy-3 (TTD3) caused by a novel homozygous variant in the GTF2H5 gene. His severe phenotype included congenital ichthyosis, complex posterior cranial fossa anomaly, life-threatening infections, bilateral cryptorchidism, and, notably, a complex cardiac malformation, which is unprecedented in TTD3 patients.PMID:37356817 | DOI:10.1111/cge.14396 (Source: Clinical Genetics)
Source: Clinical Genetics - June 25, 2023 Category: Genetics & Stem Cells Authors: Ugo Sorrentino Caterina Agosto Franca Benini Cinzia Bertolin Matteo Cassina Luca Bonadies Francesca Caroppo Anna Belloni Fortina Leonardo Salviati Source Type: research

Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant
We report a newborn patient with trichothiodystrophy-3 (TTD3) caused by a novel homozygous variant in the GTF2H5 gene. His severe phenotype included congenital ichthyosis, complex posterior cranial fossa anomaly, life-threatening infections, bilateral cryptorchidism, and, notably, a complex cardiac malformation, which is unprecedented in TTD3 patients.PMID:37356817 | DOI:10.1111/cge.14396 (Source: Clinical Genetics)
Source: Clinical Genetics - June 25, 2023 Category: Genetics & Stem Cells Authors: Ugo Sorrentino Caterina Agosto Franca Benini Cinzia Bertolin Matteo Cassina Luca Bonadies Francesca Caroppo Anna Belloni Fortina Leonardo Salviati Source Type: research

Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant
We report a newborn patient with trichothiodystrophy-3 (TTD3) caused by a novel homozygous variant in the GTF2H5 gene. His severe phenotype included congenital ichthyosis, complex posterior cranial fossa anomaly, life-threatening infections, bilateral cryptorchidism, and, notably, a complex cardiac malformation, which is unprecedented in TTD3 patients.PMID:37356817 | DOI:10.1111/cge.14396 (Source: Clinical Genetics)
Source: Clinical Genetics - June 25, 2023 Category: Genetics & Stem Cells Authors: Ugo Sorrentino Caterina Agosto Franca Benini Cinzia Bertolin Matteo Cassina Luca Bonadies Francesca Caroppo Anna Belloni Fortina Leonardo Salviati Source Type: research

Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant
We report a newborn patient with trichothiodystrophy-3 (TTD3) caused by a novel homozygous variant in the GTF2H5 gene. His severe phenotype included congenital ichthyosis, complex posterior cranial fossa anomaly, life-threatening infections, bilateral cryptorchidism, and, notably, a complex cardiac malformation, which is unprecedented in TTD3 patients.PMID:37356817 | DOI:10.1111/cge.14396 (Source: Clinical Genetics)
Source: Clinical Genetics - June 25, 2023 Category: Genetics & Stem Cells Authors: Ugo Sorrentino Caterina Agosto Franca Benini Cinzia Bertolin Matteo Cassina Luca Bonadies Francesca Caroppo Anna Belloni Fortina Leonardo Salviati Source Type: research

Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant
We report a newborn patient with trichothiodystrophy-3 (TTD3) caused by a novel homozygous variant in the GTF2H5 gene. His severe phenotype included congenital ichthyosis, complex posterior cranial fossa anomaly, life-threatening infections, bilateral cryptorchidism, and, notably, a complex cardiac malformation, which is unprecedented in TTD3 patients.PMID:37356817 | DOI:10.1111/cge.14396 (Source: Clinical Genetics)
Source: Clinical Genetics - June 25, 2023 Category: Genetics & Stem Cells Authors: Ugo Sorrentino Caterina Agosto Franca Benini Cinzia Bertolin Matteo Cassina Luca Bonadies Francesca Caroppo Anna Belloni Fortina Leonardo Salviati Source Type: research

Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant
We report a newborn patient with trichothiodystrophy-3 (TTD3) caused by a novel homozygous variant in the GTF2H5 gene. His severe phenotype included congenital ichthyosis, complex posterior cranial fossa anomaly, life-threatening infections, bilateral cryptorchidism, and, notably, a complex cardiac malformation, which is unprecedented in TTD3 patients.PMID:37356817 | DOI:10.1111/cge.14396 (Source: Clinical Genetics)
Source: Clinical Genetics - June 25, 2023 Category: Genetics & Stem Cells Authors: Ugo Sorrentino Caterina Agosto Franca Benini Cinzia Bertolin Matteo Cassina Luca Bonadies Francesca Caroppo Anna Belloni Fortina Leonardo Salviati Source Type: research

Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant
We report a newborn patient with trichothiodystrophy-3 (TTD3) caused by a novel homozygous variant in the GTF2H5 gene. His severe phenotype included congenital ichthyosis, complex posterior cranial fossa anomaly, life-threatening infections, bilateral cryptorchidism, and, notably, a complex cardiac malformation, which is unprecedented in TTD3 patients.PMID:37356817 | DOI:10.1111/cge.14396 (Source: Clinical Genetics)
Source: Clinical Genetics - June 25, 2023 Category: Genetics & Stem Cells Authors: Ugo Sorrentino Caterina Agosto Franca Benini Cinzia Bertolin Matteo Cassina Luca Bonadies Francesca Caroppo Anna Belloni Fortina Leonardo Salviati Source Type: research