S. Hadj‐Rabia
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View article: Functional and Morphological Plasticity of the Endolysosomal System: Pigment Organelles at the Crossroads of Physiology and Pathology
Functional and Morphological Plasticity of the Endolysosomal System: Pigment Organelles at the Crossroads of Physiology and Pathology Open
The endolysosomal system is a highly dynamic and versatile network of organelles essential for maintaining cellular and tissue homeostasis. Its functional diversity relies on a high degree of plasticity, driven by tightly regulated membran…
View article: The Absence of Claudin-10 in the Enamel Organ Alters Its Integrity
The Absence of Claudin-10 in the Enamel Organ Alters Its Integrity Open
Rare disorders related to tight junction (TJ) proteins have been associated with amelogenesis imperfecta. Pathogenic variants of CLDN10 , encoding claudin-10b, a cation transport pore, cause the autosomal recessive HELIX syndrome (Hypohidr…
View article: Targeted p63 isoform switch corrects dominant mutations in AEC syndrome without disrupting epidermal homeostasis
Targeted p63 isoform switch corrects dominant mutations in AEC syndrome without disrupting epidermal homeostasis Open
The transcription factor p63 is a master regulator of stratified epithelial development, and its disruption causes severe congenital defects affecting the skin, limbs, and craniofacial structures in both humans and mice. Among p63-related …
View article: Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study
Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study Open
Background The current development of gynecology services for children and adolescents seeks to meet needs both in the overall population and in patients with rare diseases. In France, the referral center for rare gynecological diseases sp…
View article: Chiasmal Decussation in Oculo-Cutaneous Albinism Type 8
Chiasmal Decussation in Oculo-Cutaneous Albinism Type 8 Open
Recently, pathogenic variants in the DCT gene were proven to cause OCA. Whereas patients with OCA8 exhibit a milder dermatological phenotype than others, their vision was initially described as impaired. The present report confirms previou…
View article: Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases Open
Human inborn errors of thymic T cell tolerance underlie the production of autoantibodies (auto-Abs) neutralizing type I IFNs, which predispose to severe viral diseases. We analyze 131 female patients with X-linked dominant incontinentia pi…
View article: Functional Characterization of Splice Variants in the Diagnosis of Albinism
Functional Characterization of Splice Variants in the Diagnosis of Albinism Open
Albinism is a genetically heterogeneous disease in which 21 genes are known so far. Its inheritance mode is autosomal recessive except for one X-linked form. The molecular analysis of exonic sequences of these genes allows for about a 70% …
View article: Sweat volume quantification in paediatric population
Sweat volume quantification in paediatric population Open
The data that support the findings of this study are available from the corresponding author upon reasonable request.
View article: MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by <i>NF1</i> loss in Schwann cells and skeletal stem/progenitor cells
MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by <i>NF1</i> loss in Schwann cells and skeletal stem/progenitor cells Open
Congenital pseudarthrosis of the tibia (CPT) is a severe pathology marked by spontaneous bone fractures that fail to heal, leading to fibrous nonunion. Half of patients with CPT are affected by the multisystemic genetic disorder neurofibro…
View article: Drugs associated with epidermal necrolysis in children: A World Health Organization pharmacovigilance database analysis
Drugs associated with epidermal necrolysis in children: A World Health Organization pharmacovigilance database analysis Open
Background Stevens–Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare life‐threatening mucocutaneous reactions most often induced by drugs. To date, no large pharmacovigilance study has been conducted in the paediatric po…
View article: Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 <scp><i>HRAS</i></scp>‐positive variant patients
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 <span><i>HRAS</i></span>‐positive variant patients Open
Background Data on dermatological manifestations of Costello syndrome (CS) remain heterogeneous and lack in validated description. Objectives To describe the dermatological manifestations of CS; compare them with the literature findings; a…
View article: Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the <i>IKBKG</i> gene
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the <i>IKBKG</i> gene Open
Incontinentia pigmenti (IP, Bloch‐Sulzberger syndrome) is a multisystem disorder which associates specific skin lesions that evolves in four stages, and occasionally, central nervous system, eye, hair, and teeth involvement. Familial (35%)…
View article: The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism
The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism Open
Background To date, almost no research on the psychosocial implications of albinism has been conducted in France and an exploration of albinism-related experiences could be beneficial, in order to better understand this condition. The aim …
View article: Unsuspected consequences of synonymous and missense variants in <i>OCA2</i> can be detected in blood cell RNA samples of patients with albinism
Unsuspected consequences of synonymous and missense variants in <i>OCA2</i> can be detected in blood cell RNA samples of patients with albinism Open
Oculocutaneous albinism type 2 (OCA2) is the second most frequent form of albinism and represents about 30% of OCA worldwide. As with all types of OCA, patients present with hypopigmentation of hair and skin, as well as severe visual abnor…
View article: The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score
The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score Open
Ectodermal dysplasias are genetic conditions affecting the development and/or homeostasis of 2 or more ectodermal derivatives, including hair, teeth, nails, and certain glands. No tool is available to assess the burden of ectodermal dyspla…
View article: P05 Biologics combined with conventional systemic agents for the treatment of children with severe psoriasis: real-life data from the BiPe cohorts
P05 Biologics combined with conventional systemic agents for the treatment of children with severe psoriasis: real-life data from the BiPe cohorts Open
Combined therapies, defined as treatment modalities involving combinations of two or more drugs, are used with three main aims: to increase the efficacy of each drug; to reduce the toxicity of each drug; and, in some cases, to reduce costs…
View article: Low risk of embryonic and other cancers in <i>PIK3CA</i><scp>‐related</scp> overgrowth spectrum: Impact on screening recommendations
Low risk of embryonic and other cancers in <i>PIK3CA</i><span>‐related</span> overgrowth spectrum: Impact on screening recommendations Open
The PIK3CA ‐related overgrowth spectrum (PROS) encompasses various conditions caused by mosaic activating PIK3CA variants. PIK3CA somatic variants are also involved in various cancer types. Some generalized overgrowth syndromes are associa…
View article: Unsuspected consequences of synonymous and missense variants in<i>OCA2</i>can be detected in blood cell RNA samples of patients with albinism
Unsuspected consequences of synonymous and missense variants in<i>OCA2</i>can be detected in blood cell RNA samples of patients with albinism Open
Oculocutaneous albinism type 2 (OCA2) is the second most frequent form of albinism and represents about 30% of OCA worldwide. As with all types of OCA, patients present with hypopigmentation of hair and skin as well as severe visual abnorm…
View article: A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement
A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement Open
X-linked hypohidrotic ectodermal dysplasia (XLHED), caused by a genetic deficiency of ectodysplasin A1 (EDA1), is a rare developmental disorder of ectodermal derivatives such as hair, sweat glands, and teeth. The absence of sweat glands an…
View article: Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia
Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia Open
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic disorder characte-rised by abnormal development of the skin and its appendages, such as hair and sweat glands, the teeth, and mucous glands of the airways, resulting in s…
View article: Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype
Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype Open
Bothnian palmoplantar keratoderma (PPKB, MIM600231) is an autosomal dominant form of diffuse non-epidermolytic PPK characterized by spontaneous yellowish-white PPK associated with a spongy appearance after water-immersion. It is due to AQP…