Congenital lamellar ichthyosis in Tunisia associated with vitamin D rickets caused by a founder nonsense mutation in the <i><scp>TGM</scp>1</i> gene

Zaouak, Anissa; Abdessalem, Ghaith; Mkaouar, Rahma; Messaoud, Olfa; Abdelhak, Sonia; Fenniche, Samy

doi:10.1111/ijd.14453

Cited by 5 publications

(3 citation statements)

References 10 publications

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“…26 Reported cases of rickets in patients with ichthyosis are summarized in Table 3. [27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44][45][46] Rickets in patients with ichthyosis is explained by the following:…”

Section: Alopecia As a Sign Of Hypocalcemia Vitamin D-dependent Ricmentioning

confidence: 99%

“…31,33 • Reduced sun exposure. 27,45,46 Some forms of ichthyosiform erythroderma deteriorate during summer leading to avoidance behavior. 35 • Dark phototype (type IV and type V phototype).…”

Section: Rickets Associated With Ichthyosismentioning

confidence: 99%

“…35 • Dark phototype (type IV and type V phototype). 28,45,46 • Excessive loss of calcium through the skin. 39,40,45 • Prolonged exclusive breastfeeding and a short vitamin D supplementation.…”

Section: Rickets Associated With Ichthyosismentioning

confidence: 99%

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Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention

Litaiem

Chabchoub

Bacha

et al. 2020

Photoderm Photoimm Photomed

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Background Rickets is a common disease worldwide. In the developed world, its prevalence dramatically decreased but still diagnosed in at‐risk populations. The skin plays a critical role in vitamin D synthesis. Therefore, several skin diseases, especially keratinization disorders, could lead to impaired vitamin D metabolism and vitamin D deficient rickets. Objective The article aimed to summarize the current knowledge of skin diseases and conditions associated with rickets. Methods To examine the association between rickets and skin diseases, we performed a systematic review of the literature using PubMed database. The search included studies published from the database inception to August 2019. Results A total number of 75 articles were included. Identified conditions associated with rickets were ichthyosis being a more common skin diseases, alopecia, epidermal and melanocytic nevi, xeroderma pigmentosum, mastocytosis, psoriasis, and atopic dermatitis. Three types of rickets were identified: vitamin D‐dependent rickets, hypocalcemic vitamin D‐dependent rickets type 2, and hypophosphatemic rickets. Cutaneous skeletal hypophosphatemia syndrome is a newly described and under‐recognized condition. It is defined by the association of epidermal or melanocytic nevi, hypophosphatemic rickets, and elevated levels of fibroblast growth factor 23. Rickets in patients with ichthyosis was mainly due to impaired ability of ichthyotic skin to synthesize vitamin D, poor UV penetration of the skin caused by keratinocyte proliferation, and dark phototype. The latter may be considered a risk factor for rickets in patients with ichthyosis. Conclusion Despite its rarity, these associations should be properly recognized by dermatologists. Early diagnosis of rickets is important to prevent growth retardation and skeletal deformities.

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Section: Alopecia As a Sign Of Hypocalcemia Vitamin D-dependent Ricmentioning

confidence: 99%

Section: Rickets Associated With Ichthyosismentioning

confidence: 99%

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Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention

Litaiem

Chabchoub

Bacha

et al. 2020

Photoderm Photoimm Photomed

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High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the “Réunion Paradox”

Chacon-Camacho,

Astiazarán,

Vera-Duarte

et al. 2023

European Journal of Medical Genetics

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Response of short‐term high‐dose vitamin D therapy in lamellar ichthyosis: A rare case report

Taneja

Dhanta

Hazarika

2020

Dermatologic Therapy

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Lamellar ichthyosis (LI) is a disorder of cornification that result in abnormal differentiation and desquamation of the epidermis. It is characterized by presence of large, dark, plate-like scales all over the body with flexural accentuation. We report a case of LI in an 8-yearold male child, diagnosed clinically, who responded well to short-term high-dose oral vitamin D therapy. An 8-year-old male child born of second-degree consanguineous marriage was brought to our outpatient department with thick brownish scales and fissuring all over the body since birth. A history of collodion membrane at birth was present. These scales were associated

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Congenital lamellar ichthyosis in Tunisia associated with vitamin D rickets caused by a founder nonsense mutation in the TGM1 gene

Cited by 5 publications

References 10 publications

Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention

Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention

High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the “Réunion Paradox”

Response of short‐term high‐dose vitamin D therapy in lamellar ichthyosis: A rare case report

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