Ectrodactyly-ectodermal dysplasia-clefting syndrome with unusual cutaneous vitiligoid and psoriasiform lesions due to a novel single point TP63 gene mutation

Wawrzycki, Bartłomiej; Pietrzak, Aldona; Chodorowska, Grażyna; Filip, Agata; Petit, Véronique; Rudnicka, Lidia; Dybiec, Ewa; Rakowska, Adriana; Sobczyńska-Tomaszewska, Agnieszka; Kanitakis, Jean

doi:10.5114/ada.2018.73437

Cited by 5 publications

(3 citation statements)

References 47 publications

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“…Patient 14 patient was diagnosed with X-linked IFAP. Clinical and histopathological findings in this patient have been published previously [8]. He presented with multiple concomitant skeletal malformations including high-arched (cavus) feet (Fig.…”

Section: Other Genodermatosesmentioning

confidence: 70%

“…In each patient, molecular analysis was performed to confirm the diagnosis. In two patients (P14 and P15), biopsies and molecular analyses were done as described previously [7,8]. In the remaining patients, next-generation sequencing was carried out with a dedicated panel (NimbleDesign, Roche) of genes that cause Mendelian disorders of cornification (MeDOC; described in Additional file 1).…”

Section: Methodsmentioning

confidence: 99%

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Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review

Pietrzak

Wawrzycki

Schmuth

et al. 2022

Orphanet J Rare Dis

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Background Skin lesions on the feet and foot deformities impair daily activities and decrease quality of life. Although substantial foot deformities occur in many genodermatoses, few reports have been published on this topic. Therefore, we performed a retrospective chart review to identify patients with genodermatoses and foot disorders. We included 16 patients, who were investigated clinically and with molecular biology. Results The following genodermatoses with foot deformities were detected: autosomal recessive congenital ichthyosis (ARCI, n = 7); palmoplantar keratodermas (PPKs, n = 6); ichthyosis follicularis, atrichia, and photophobia (IFAP, n = 1); ectrodactyly-ectodermal dysplasia-clefting (EEC, n = 1); and ichthyosis with confetti (IWC, n = 1). Foot problems not only varied in severity depending on the disease but also showed phenotypic heterogeneity among patients with the same condition. Foot deformities were most pronounced in patients with EEC (split foot) or IWC (contractures) and less severe in those with ARCI (clawed toes), IFAP (hollow feet), or PPK (no bone abnormalities in the feet). Conclusion Because a range of distinct genodermatoses involve foot abnormalities, early rehabilitation and other corrective measures should be provided to patients with foot involvement to improve gait and prevent/delay irreversible complications.

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Section: Other Genodermatosesmentioning

confidence: 70%

Section: Methodsmentioning

confidence: 99%

Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review

Pietrzak

Wawrzycki

Schmuth

et al. 2022

Orphanet J Rare Dis

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“…Human TP63 mutations have been reported and classified into seven different diseases in the clinical setting, including five developmental disorders and two non-syndromic disorders. Point mutations in the DBD result in EEC (ectrodactyly-ectodermal dysplasiacleft) syndrome, which is characterized by limb deformation, cleft lip and palate, and ectodermal dysplasia [49]. Mutations in the SAM and TID domains of the TP63 C-terminus are responsible for ankyloblepharon, ectodermal defects, and cleft lip/palate syndrome (AEC) [50].…”

Section: Humanmentioning

confidence: 99%

The Role of Mutant p63 in Female Fertility

Luan

et al. 2021

IJMS

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The transcription factor p63, one of the p53 family members, plays an essential role in regulating maternal reproduction and genomic integrity as well as epidermal development. TP63 (human)/Trp63 (mouse) produces multiple isoforms: TAp63 and ΔNp63, which possess a different N-terminus depending on two different promoters, and p63a, p63b, p63g, p63δ, and p63ε as products of alternative splicing at the C-terminus. TAp63 expression turns on in the nuclei of primordial germ cells in females and is maintained mainly in the oocyte nuclei of immature follicles. It has been established that TAp63 is the genomic guardian in oocytes of the female ovaries and plays a central role in determining the oocyte fate upon oocyte damage. Lately, there is increasing evidence that TP63 mutations are connected with female infertility, including isolated premature ovarian insufficiency (POI) and syndromic POI. Here, we review the biological functions of p63 in females and discuss the consequences of p63 mutations, which result in infertility in human patients.

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Adalimumab Experience in the Management of Hidradenitis Suppurativa Burdened with Rapp-Hodgkin Syndrome

Murashkin,

Materikin,

Epishev

et al. 2023

Vopr. sovr. pediatr.

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Background. Rapp-Hodgkin syndrome is a rare genetic disease from the ectodermal dysplasia group. It manifests with damage of ectodermal structures — layer of embrional tissue that provides the development of many organs and tissues in the body, such as: skin, sweat glands, hair, teeth, and nails. Disease symptoms may range from mild to severe and include dental abnormalities, fragile, thin or no hair, abnormal nails, hypohidrosis (due to the reduced number of sweat glands), cleft lips and palate. Hidradenitis suppurativa is a chronic inflammatory disease that predominantly affects apocrine glands areas. This nosology is characterized by painful nodes, abscesses, and fistulas, prone to relapses and leading to scarring.Clinical case description. The authors present a clinical case demonstrating the combination of Rapp-Hodgkin syndrome and severe hidradenitis suppurativa in 17-year-old male patient.Conclusion. The heterogeneous clinical findings of hidradenitis suppurativa and history of rare genetic disease result in patients' admissions to various medical specialists. Thus, it leads to delayed verification of the diagnosis and incorrect treatment methods. As a result, patients have persistent cosmetic skin defects, possible complications of irrational treatment, and decreased quality of life by the time of diagnosis.

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Ectrodactyly-ectodermal dysplasia-clefting syndrome with unusual cutaneous vitiligoid and psoriasiform lesions due to a novel single point TP63 gene mutation

Cited by 5 publications

References 47 publications

Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review

Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review

The Role of Mutant p63 in Female Fertility

Adalimumab Experience in the Management of Hidradenitis Suppurativa Burdened with Rapp-Hodgkin Syndrome

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