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

(5 citation statements)

References 47 publications

(56 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…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%

See 1 more Smart Citation

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

Self Cite

View full text Add to dashboard Cite

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.

show abstract

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

Self Cite

View full text Add to dashboard Cite

show abstract

“…Our study group was diverse and consisted of many cases that differed genotypically and phenotypically, but with a common feature of persistent skin disease. In our study, 23 patients were classified as ichthyoses, 5 as keratodermas, 1 had ectrodactyly–ectodermal dysplasia clefting (EEC) syndrome [ 11 ], and 1 had erythrokeratoderma variabilis-like lesions. The confirmed mutations are presented in Supplementary Materials Table S1 .…”

Section: Resultsmentioning

confidence: 99%

The Depressiveness, Quality of Life and NEO-FFI Scale in Patients with Selected Genodermatoses

Wawrzycki,

Fryze,

Mlak

et al. 2024

JCM

Self Cite

View full text Add to dashboard Cite

Background: Dermatological conditions extend beyond physical symptoms, profoundly impacting the psychological well-being of patients. This study explores the intricate relationship between depressive symptoms, quality of life (QoL), and personality traits in individuals diagnosed with specific genodermatoses. Methods: The study cohort comprised 30 patients with genodermatoses treated at the dermatology clinic, and a healthy control group. Standardized survey questionnaires: The Dermatology Life Quality Index (DLQI), Beck’s Depression Inventory (BDI), and NEO Five-Factor Inventory (NEO-FFI) were employed for assessments. Results: The findings indicate a significantly elevated risk of severely or very severely reduced QoL in the study group compared to matched controls (OR = 22.2, 95% CI: 2.7–184.8). Specifically, individuals with ichthyosis exhibited a staggering 131-fold higher risk of diminished QoL compared to the control group. Furthermore, the prevalence of depression was higher in the study group than in the control group (36.7% vs. 10%; p = 0.0086). A detailed analysis revealed that patients with low or average agreeableness exhibited a notably higher incidence of depression compared to those with high agreeableness (100% or 75% vs. 28.6%; p = 0.0400). Similarly, individuals with high levels of neuroticism had a significantly higher incidence of depression compared to those with average or low levels of neuroticism (rates: 66.7% vs. 9.1% or 0%, respectively; p = 0.0067). Conclusions: The study underscores a substantial correlation between genodermatoses and the mental health of affected individuals, underscoring the imperative consideration of psychological factors in the management of hereditary skin disorders. Our study’s primary limitation is the small sample size, stemming from difficulties in recruiting participants due to the rare nature of the studied conditions.

show abstract

“…Синдром Рэппа -Ходжкина вызван изменениями в гене TP63, кодирующем опухолевый белок p63 [5]. Ген локализован на длинном плече 3-й хромосомы (3q27) [6,7]. Примерно у 30% людей с синдромом Рэппа -Ходжкина, вызванным изменениями в гене TP63, наследование патогенного варианта гена является аутосомно-доминантным [8], т.е.…”

Section: обоснованиеunclassified

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

Murashkin,

Materikin,

Epishev

et al. 2023

Vopr. sovr. pediatr.

View full text Add to dashboard Cite

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.

show abstract

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 Depressiveness, Quality of Life and NEO-FFI Scale in Patients with Selected Genodermatoses

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

Contact Info

Product

Resources

About