Comorbidity of bathing suit ichthyosis and limb-girdle muscular dystrophy type 2 A in a Tunisian patient revealed by Whole Exome Sequencing
We report here on a 32-year-old woman born to consanguineous parents. She presented with congenital ichthyosis and muscular dystrophy. She was primarily suspected as suffering from Chanarin-Dorfman syndrome (CDS) with unusual form. Screening of founder mutations allowed only the elucidation of the molecular etiology of Ichthyosis. As the result was inconclusive, Whole Exome Sequencing (WES) was conducted. WES data analysis led to the identification of a mutation in the CAPN3 gene underlying limb-girdle muscular dystrophy type 2A (LGMD2A). Sanger sequencing confirmed the familial segregation of mutations. This work presents...
Source: Gene - January 5, 2024 Category: Genetics & Stem Cells Authors: Nessrine Mezzi Anissa Zaouak Rahma Mkaouar Imen Kacem Riadh Gouider Samy Fenniche Ridha Mrad Sonia Abdelhak Lilia Romdhane Source Type: research
Unraveling the molecular mechanisms of cell migration impairment and apoptosis associated with steroid sulfatase deficiency: Implications for X-linked ichthyosis
In this study, we investigated the mechanisms underlying XLI and found that STS deficiency reduces cell mobility and increases apoptosis in human keratinocyte HaCaT cells. To explore these mechanisms further, RNA-sequencing was conducted on skin tissues from STS transgenic and knockout mice. Our RNA-seq results revealed that STS deficiency plays a critical role in regulating multiple signaling pathways associated with cell mobility and apoptosis, such as Wnt/β signaling and the Hippo signaling pathway. Knockdown of the STS gene using shRNA in HaCaT cells led to an upregulation of E-cadherin expression and suppression of k...
Source: Biochimica et Biophysica Acta - January 5, 2024 Category: Biochemistry Authors: Tae-Uk Kwon Yeo-Jung Kwon Hyoung-Seok Baek Hyemin Park Hyein Lee Young-Jin Chun Source Type: research
Filaggrin-Associated Atopic Skin, Eye, Airways, and Gut Disease, Modifying the Presentation of X-Linked Reticular Pigmentary Disorder (XLPDR)
ConclusionThis patient had multiple atopic manifestations affecting eye, skin, chest, and gut, complicating the presentation of XLPDR. This highlights that commonFLG polymorphisms should always be considered when assessing genotype –phenotype correlations of other genetic variation in patients with atopic symptoms. Additionally, while the patient exhibited an enhanced IFN signature, he does not have an NK cell defect, suggesting this may not be a constant feature of XLPDR. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - January 2, 2024 Category: Allergy & Immunology Source Type: research
A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency
Mol Genet Metab. 2023 Dec 21:108116. doi: 10.1016/j.ymgme.2023.108116. Online ahead of print.ABSTRACTMultiple sulfatase deficiency (MSD) is an ultra-rare, inherited lysosomal storage disease caused by mutations in the gene sulfatase modifying factor 1 (SUMF1). MSD is characterized by the functional deficiency of all sulfatase enzymes, leading to the storage of sulfated substrates including glycosaminoglycans (GAGs), sulfolipids, and steroid sulfates. Patients with MSD experience severe neurological impairment, hearing loss, organomegaly, corneal clouding, cardiac valve disease, dysostosis multiplex, contractures, and ichth...
Source: Molecular Medicine - December 31, 2023 Category: Molecular Biology Authors: Vi Pham Livia Sertori Finoti Margaret M Cassidy Jean Ann Maguire Alyssa L Gagne Elisa A Waxman Deborah L French Kaitlyn King Zitao Zhou Michael H Gelb Parith Wongkittichotee Xinying Hong Lars Schlotawa Beverly L Davidson Rebecca C Ahrens-Nicklas Source Type: research
Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
We report a case of an 8-year-old boy with alopecia of the scalp, eyebrows, and eyelashes, which occurred in his first year of age. His birth was uneventful, and his developmental milestones were normal. The alopecia was non-scarring and was accompanied by mild generalized xerosis, photophobia, and recurrent angular cheilitis. Moreover, numerous non-inflammatory, follicular, keratotic tiny papules were noticed. His deciduous teeth had retention with gum hyperplasia, and his feet showed symmetrical plantar keratoderma and nail dystrophy of the right big toe. The genetic testing confirmed an X-linked recessive inheritance of...
Source: Clinical, Cosmetic and Investigational Dermatology - December 13, 2023 Category: Dermatology Authors: Nouf F Bin Rubaian Bashayer S Al-Awam Abdulelah Hassan Alluhaybi Ahmed Abdulaziz Alsaati Source Type: research
An infant with lamellar ichthyosis presenting with meningitis
We present a 45-day-old infant who came to our facility complaining of a high-grade persistent fever, high-pitched crying, decreased feeding, odd body movements, rapid breathing, and grunting that lasted for 2 days. He was diagnosed with lamellar ichthyosis. (Source: Clinical Case Reports)
Source: Clinical Case Reports - December 11, 2023 Category: General Medicine Authors: Telila Mesfin,
Mesfin Tsegaye,
Kenbon Seyoum,
Girma Geta,
Neway Ejigu,
Tesfaye Elala,
Degefa Gomora,
Biniyam Sahiledengle,
Eshetu Mesfin Tadesse,
Getu Kusa,
Teketel Tilahun Tags: CASE REPORT Source Type: research
Comparison of skin barrier abnormalities and epidermal ceramide profiles among three ω-O-acylceramide synthesis-deficient mouse strains
The epidermis contains many structurally diverse ceramides, which form the skin permeability barrier (skin barrier). Mutations in genes involved in the synthesis of ω-O-acylceramides (acylceramides) and protein-bound ceramides cause ichthyosis. (Source: Journal of Dermatological Science)
Source: Journal of Dermatological Science - December 11, 2023 Category: Dermatology Authors: Yuta Yamamoto, Takayuki Sassa, Akio Kihara Source Type: research
Locked-in Scale: Full Manifestation of Lamellar Ichthyosis in an Adult with Serious Physical and Social Impairments
Ann Dermatol. 2023 Nov;35(Suppl 2):S381-S382. doi: 10.5021/ad.21.193.NO ABSTRACTPMID:38061753 | DOI:10.5021/ad.21.193 (Source: Annals of Dermatology)
Source: Annals of Dermatology - December 7, 2023 Category: Dermatology Authors: Dea Kwan Yun Kyujin Yeom Uri Shon Mi Soo Choi Byung Cheol Park Myung Hwa Kim Source Type: research
Novel Compound Heterozygous Mutations of < em > TGM1 < /em > Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma
We describe the case of a male newborn with NBCIE whose whole exome sequencing revealed two variants of TGM1 gene (NM_000359.3) in a compound heterozygous state: c.790C>T (p.Arg264Trp) in exon 5 and c.2060G>A (p.Arg687His) in exon 13. In the literature, the Arg264Trp variant has been reported as homozygous or compound heterozygous with other variants in patients with BSI. In contrast, the Arg687His variant has been reported only as homozygous in patients with BSI. To the best of our knowledge, this is the first case whose two compound heterozygous variants, exhibiting the NBCIE phenotype, instead of the BSI.PMID:3806...
Source: Annals of Dermatology - December 7, 2023 Category: Dermatology Authors: Elif Kele ş Gülnerman Nurcan Hanedan Merve Akillioglu G ülsüm Kayhan Esra Adi şen Özlem Erdem İbrahim Murat Hirfanoğlu Ebru Ergenekon Eray Esra Önal Canan T ürkyilmaz Esin Ko ç Source Type: research
Locked-in Scale: Full Manifestation of Lamellar Ichthyosis in an Adult with Serious Physical and Social Impairments
Ann Dermatol. 2023 Nov;35(Suppl 2):S381-S382. doi: 10.5021/ad.21.193.NO ABSTRACTPMID:38061753 | DOI:10.5021/ad.21.193 (Source: Annals of Dermatology)
Source: Annals of Dermatology - December 7, 2023 Category: Dermatology Authors: Dea Kwan Yun Kyujin Yeom Uri Shon Mi Soo Choi Byung Cheol Park Myung Hwa Kim Source Type: research
Novel Compound Heterozygous Mutations of < em > TGM1 < /em > Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma
We describe the case of a male newborn with NBCIE whose whole exome sequencing revealed two variants of TGM1 gene (NM_000359.3) in a compound heterozygous state: c.790C>T (p.Arg264Trp) in exon 5 and c.2060G>A (p.Arg687His) in exon 13. In the literature, the Arg264Trp variant has been reported as homozygous or compound heterozygous with other variants in patients with BSI. In contrast, the Arg687His variant has been reported only as homozygous in patients with BSI. To the best of our knowledge, this is the first case whose two compound heterozygous variants, exhibiting the NBCIE phenotype, instead of the BSI.PMID:3806...
Source: Annals of Dermatology - December 7, 2023 Category: Dermatology Authors: Elif Kele ş Gülnerman Nurcan Hanedan Merve Akillioglu G ülsüm Kayhan Esra Adi şen Özlem Erdem İbrahim Murat Hirfanoğlu Ebru Ergenekon Eray Esra Önal Canan T ürkyilmaz Esin Ko ç Source Type: research
Locked-in Scale: Full Manifestation of Lamellar Ichthyosis in an Adult with Serious Physical and Social Impairments
Ann Dermatol. 2023 Nov;35(Suppl 2):S381-S382. doi: 10.5021/ad.21.193.NO ABSTRACTPMID:38061753 | DOI:10.5021/ad.21.193 (Source: Annals of Dermatology)
Source: Annals of Dermatology - December 7, 2023 Category: Dermatology Authors: Dea Kwan Yun Kyujin Yeom Uri Shon Mi Soo Choi Byung Cheol Park Myung Hwa Kim Source Type: research
