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

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