Home >

Recent publications on genodermatoses

Ichthyoses


Paraneoplastic acquired ichthyosis as the first manifestation in breast implant-associated anaplastic large cell lymphoma.
Chiang Wong H et al.

Chiang Wong H et al.
Paraneoplastic acquired ichthyosis as the first manifestation in breast implant-associated anaplastic large cell lymphoma.
An Bras Dermatol. 2024 , 99, (4):621-624.

See on Pubmed

Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.
Zhang J et al.

Zhang J et al.
Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.
Mol Med Rep. 2024 Jul , 30, (1).


Inherited ichthyosis comprises a series of heterogeneous dermal conditions; it mainly manifests as widespread hyperkeratosis, xerosis and scaling of the skin. At times, overlapping symptoms require differential diagnosis between ichthyosis and several other similar disorders. The present study reports seven patients with confirmed or suspected to be associated with ichthyosis by conducting a thorough clinical and genetic investigation. Genetic testing was conducted using whole‑exome (...)

See on Pubmed

Managing dry skin in patients with comorbidities or with advanced age: unmet needs and roles for products containing potential emollient-plus ingredients.
Augustin M et al.

Augustin M et al.
Managing dry skin in patients with comorbidities or with advanced age: unmet needs and roles for products containing potential emollient-plus ingredients.
J Dermatolog Treat. 2024 Dec , 35, (1):2326171.


In dry skin (DS), skin-barrier function is easily disturbed and moisturizing factors in the stratum corneum are reduced. Despite being a common condition, DS is often overlooked in patients with advanced age or comorbid diseases. In September 2022, specialists in dermatology and skin care met to discuss unmet needs and management of patients with DS with existing medical conditions or DS induced by ongoing pharmacological treatments. There was consensus about the need to improve the current (...)

See on Pubmed

Search on Pubmed

Inherited Epidermolysis Bullosa


Two sisters with recessive dystrophic epidermolysis bullosa caused by novel variants in COL7A1.
Zhou M et al.

Zhou M et al.
Two sisters with recessive dystrophic epidermolysis bullosa caused by novel variants in COL7A1.
Skin Res Technol. 2024 Jun , 30, (6):e13779.

See on Pubmed

Junctional Epidermolysis Bullosa Linked to Homozygous Mutation in LAMC2 Gene: A Case Report With Eosinophil-Rich Inflammatory Infiltrate.
Haskoloğlu Ş et al.

Haskoloğlu Ş et al.
Junctional Epidermolysis Bullosa Linked to Homozygous Mutation in LAMC2 Gene: A Case Report With Eosinophil-Rich Inflammatory Infiltrate.
Am J Dermatopathol. 2024 Jul 01, 46, (7):447-451.


Junctional epidermolysis bullosa (JEB) is a rare, incurable, devastating, and mostly fatal congenital genetic disorder characterized by painful blistering of the skin and mucous membranes in response to minor trauma or pressure. JEB is classified roughly into 2 subtypes: JEB-Herlitz is caused by mutations on genes encoding laminin-332. The authors present a patient consulted with a suspicion of primary immunodeficiency due to skin sores that started at the age of 1 month and a history of 3 (...)

See on Pubmed

Practical considerations relevant to treatment with the gene therapy beremagene geperpavec-svdt for dystrophic epidermolysis bullosa.
Paller AS et al.

Paller AS et al.
Practical considerations relevant to treatment with the gene therapy beremagene geperpavec-svdt for dystrophic epidermolysis bullosa.
J Dermatolog Treat. 2024 Dec , 35, (1):2350232.


Dystrophic epidermolysis bullosa (DEB), a rare genetic skin disease caused by loss-of-function mutations in , the gene encoding type VII collagen (COL7), is characterized by skin blistering, scarring, and extracutaneous manifestations that markedly reduce patient quality-of-life. Beremagene geperpavec-svdt ('B-VEC') is a gene therapy employing a non-integrating, replication-defective herpes simplex virus type 1 (HSV-1)-based vector encoding two copies of full-length human to restore COL7 (...)

See on Pubmed

Search on Pubmed

Xeroderma Pigmentosum


Impression cytology of ocular surface in xeroderma pigmentosum.
Marcos AAA et al.

Marcos AAA et al.
Impression cytology of ocular surface in xeroderma pigmentosum.
Arq Bras Oftalmol. 2024 , 87, (4):e2023.


To describe cellular alterations detected by impression cytology of the ocular surface in patients with xeroderma pigmentosum. The secondary objective was to assess the reliability of impression cytology in diagnosing ocular surface squamous neoplasia.

See on Pubmed

DNA repair ability in a patient with voriconazole-related squamous cell carcinoma that required differential diagnosis from xeroderma pigmentosum.
Fukumoto T et al.

Fukumoto T et al.
DNA repair ability in a patient with voriconazole-related squamous cell carcinoma that required differential diagnosis from xeroderma pigmentosum.
J Dermatol Sci. 2024 May , 114, (2):83-85.

See on Pubmed

Evidence for persistent UV-induced DNA damage and altered DNA damage response in xeroderma pigmentosa patient corneas.
Akepogu J et al.

Akepogu J et al.
Evidence for persistent UV-induced DNA damage and altered DNA damage response in xeroderma pigmentosa patient corneas.
Exp Eye Res. 2024 Jun , 243:109901.


Xeroderma pigmentosum (XP) is a rare genetic disorder characterized by injury to the ocular surface due to exposure to ultraviolet (UV) radiation. UV-induced damage in the cells leads to the formation of cyclobutane pyrimidine dimers (CPDs) and 6-4 pyrimidine-pyrimidone photoproducts that are repaired by the NER (Nucleotide Excision Repair) pathway. Mutations in the genes coding for NER proteins, as reported in XP patients, would lead to sub-optimal damage repair resulting in clinical signs (...)

See on Pubmed

Search on Pubmed

Palmoplantar Keratoderma


Self-reported clinical features and treatment effectiveness of Papillon-Lefèvre syndrome patients from five Latin American countries: A cross-sectional online survey study.
Alfaro-Sepúlveda D et al.

Alfaro-Sepúlveda D et al.
Self-reported clinical features and treatment effectiveness of Papillon-Lefèvre syndrome patients from five Latin American countries: A cross-sectional online survey study.
Australas J Dermatol. 2024 Jun , 65, (4):305-310.


Most studies about Papillon-Lefèvre syndrome (PLS) are limited to case reports and patients of the same nationality. This study aimed to determine the self-reported prevalence of signs, symptoms and treatment effectiveness in PLS patients from five Latin American countries.

See on Pubmed

Spiny Keratoderma: Clinical and Histopathological Findings in a Series of 3 Cases.
Hanly A et al.

Hanly A et al.
Spiny Keratoderma: Clinical and Histopathological Findings in a Series of 3 Cases.
Am J Dermatopathol. 2024 Jul 01, 46, (7):439-442.


Spiny keratoderma is a rare entity presenting with minute keratotic spines on the palms and soles. Spiny keratoderma can be inherited or acquired, and the acquired form may be associated with underlying malignancy or systemic disease. Clinically, the differential diagnosis includes other digitate keratoses on acral sites, most notably arsenical keratosis, filiform verruca, and punctate porokeratosis. Biopsy findings typically include a column of parakeratosis overlying a diminished granular (...)

See on Pubmed

Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.
Zhang J et al.

Zhang J et al.
Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.
Mol Med Rep. 2024 Jul , 30, (1).


Inherited ichthyosis comprises a series of heterogeneous dermal conditions; it mainly manifests as widespread hyperkeratosis, xerosis and scaling of the skin. At times, overlapping symptoms require differential diagnosis between ichthyosis and several other similar disorders. The present study reports seven patients with confirmed or suspected to be associated with ichthyosis by conducting a thorough clinical and genetic investigation. Genetic testing was conducted using whole‑exome (...)

See on Pubmed

Search on Pubmed

Neurofibromatosis


Treatment With Selumetinib for Café-au-Lait Macules and Plexiform Neurofibroma in Pediatric Patients With Neurofibromatosis Type 1.
Guo YX et al.

Guo YX et al.
Treatment With Selumetinib for Café-au-Lait Macules and Plexiform Neurofibroma in Pediatric Patients With Neurofibromatosis Type 1.
JAMA Dermatol. 2024 Mar 01, 160, (3):366-368.

See on Pubmed

Epilepsy in Legius syndrome: Coincidence or causation?
Medina Lemus A et al.

Medina Lemus A et al.
Epilepsy in Legius syndrome: Coincidence or causation?
Am J Med Genet A. 2024 Jun , 194, (6):e63547.


Legius syndrome is a rare genetic disorder, caused by heterozygous SPRED1 pathogenic variants, which shares phenotypic features with neurofibromatosis type 1 (NF1). Both conditions typically involve café-au-lait macules, axillary freckling, and macrocephaly; however, patients with NF1 are also at risk for tumors, such as optic nerve gliomas and neurofibromas. Seizure risk is known to be elevated in NF1, but there has been little study of this aspect of Legius syndrome. The reported epilepsy (...)

See on Pubmed

Neurofibroma: Case Series with Clinical Features and Recommendations.
Khatri N et al.

Khatri N et al.
Neurofibroma: Case Series with Clinical Features and Recommendations.
Acta Neurol Taiwan. 2024 Sep 30, 33(3):112-121.


Neurofibroma is an autosomal benign disorder. It can be localized, diffuse or invasive like plexiform neurofibroma that involves the nerves, muscle, tissues, skeleton. It represents itself as a destructive variant of neurofibroma, mostly present as orbital or periorbital neurofibroma or may be associated with autosomal dominant disease. Clinical diagnosis of neurofibromatosis (NF) according to National Institutes of Health (NIH) criteria should have more than two of the seven features (...)

See on Pubmed

Search on Pubmed

Ectodermal Dysplasia


Scalp Closure in Midline Cutis Aplasia-An Absolute Indication for Preoperative Imaging.
Chim H et al.

Chim H et al.
Scalp Closure in Midline Cutis Aplasia-An Absolute Indication for Preoperative Imaging.
J Craniofac Surg. 2024 Jun 01, 35, (4):e345-e347.


The ideal evaluation and treatment of aplasia cutis congenita remains disputed. We present a case of midline scalp cutis aplasia that healed by secondary intention, leaving an area of residual alopecia. There were no clinical indicators of an underlying calvarial defect. Tissue expansion of the scalp was done in preparation for scalp closure. However, on the removal of the expanders and scalp advancement, an unrecognized midline calvarial defect in which a scar tract of herniated dura was (...)

See on Pubmed

Like Father, Like Daughter - Ectodermal Dysplasia-Syndactyly Syndrome: A Case Report.
Jith G et al.

Jith G et al.
Like Father, Like Daughter - Ectodermal Dysplasia-Syndactyly Syndrome: A Case Report.
J Hand Surg Asian Pac Vol. 2024 Jun , 29, (3):248-251.


Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) is an exceedingly rare condition associated with mutations in the PVL4 gene. It is characterised by sparse, brittle hair, eyebrows and eyelashes, abnormal dentition and nails, along with bilateral cutaneous syndactyly involving the fingers and toes. We report a 2-year-old girl who presented to us with bilateral complete simple syndactyly of the third and fourth web spaces of the hands, along with bilateral syndactyly of both feet involving (...)

See on Pubmed

Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature.
Kablan A et al.

Kablan A et al.
Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature.
Ital J Pediatr. 2024 Jun 05, 50, (1):112.


Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that results in the abnormal development of structures derived from ectodermal tissue. This rare condition predominantly affects the hair, nails, eccrine glands, and teeth. While HED can be caused by various genes, the EDA, EDAR, EDARADD, and WNT10A genes account for approximately 90% of cases. Notably, HED forms associated with variants in the EDA, EDAR, or EDARADD genes may exhibit similar phenotypes due to defects in a common (...)

See on Pubmed

Search on Pubmed

Cutis laxa


Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa.
Zhang Y et al.

Zhang Y et al.
Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa.
Mol Biol Rep. 2024 Apr 10, 51, (1):498.


Cutis laxa is a connective tissue disease caused by abnormal synthesis or secretion of skin elastic fibers, leading to skin flabby and saggy in various body parts. It can be divided into congenital cutis laxa and acquired cutis laxa, and inherited cutis laxa syndromes is more common in clinic.

See on Pubmed

NOVEL RETINAL FINDINGS IN A PATIENT WITH AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2A.
Abdullah M et al.

Abdullah M et al.
NOVEL RETINAL FINDINGS IN A PATIENT WITH AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2A.
Retin Cases Brief Rep. 2024 May 01, 18, (3):400-403.


To report a case of autosomal recessive cutis laxa type 2A with novel retinal findings.

See on Pubmed

A Growth-Restricted Neonate with Abnormal Facies and Lax Skin.
Jyothi S et al.

Jyothi S et al.
A Growth-Restricted Neonate with Abnormal Facies and Lax Skin.
Neoreviews. 2024 May 01, 25, (5):e286-e289.

See on Pubmed

Search on Pubmed

Ehlers-Danlos


Microcornea, cerebellar hypoplasia and hyperlax joints-unusual combo in rare Ehlers-Danlos syndrome-musculocontractural type 1.
Umapathy N et al.

Umapathy N et al.
Microcornea, cerebellar hypoplasia and hyperlax joints-unusual combo in rare Ehlers-Danlos syndrome-musculocontractural type 1.
BMJ Case Rep. 2024 Jun 04, 17, (6).


Ehlers-Danlos syndrome is a group of connective tissue disorders with 14 subtypes, involving joint hyperlaxity, tissue fragility, hypertensive skin and other systemic organs with an incidence of 1 in 1 000 000 worldwide. We report a middle childhood female born of second degree consanguineous marriage with limping gait with muscle weakness, with normal development and IQ. Examination revealed microcornea, distal joint laxity of fingers and wrist, hypotonia and broad-based limping gait. (...)

See on Pubmed

Twenty-Three-Year-Old Patient With Chronic Pain and Fainting Spells-A Clinical Vignette.
Ploeg AN et al.

Ploeg AN et al.
Twenty-Three-Year-Old Patient With Chronic Pain and Fainting Spells-A Clinical Vignette.
Am J Phys Med Rehabil. 2024 Jul 01, 103, (7):e82-e85.


Care for and clinical presentation of patients with connective tissue disorders, specifically hypermobile Ehlers-Danlos syndrome, is poorly understood. Diagnosis can often take years, and comprehensive care can be difficult to coordinate for these patients. This vignette aims to show the clinical characteristics of a young female with Hypermobile Ehlers-Danlos, as well as the evaluation of her diagnostic presentation and subsequent treatment. The demographic data of this population are yet (...)

See on Pubmed

Fracture prevalence in children diagnosed with Ehlers-Danlos Syndrome and Generalized Joint Hypermobility.
Yeung F et al.

Yeung F et al.
Fracture prevalence in children diagnosed with Ehlers-Danlos Syndrome and Generalized Joint Hypermobility.
Child Abuse Negl. 2024 Jul , 153:106828.


There is limited understanding of the hypothesized association between the Ehlers-Danlos Syndromes (EDS), hypermobility and fractures in children. Despite this, EDS and hypermobility continue to be raised in the legal setting as possible causes of unexplained fractures in infants where there is a concern for physical abuse. Further understanding is needed regarding fractures in children with EDS and (...)

See on Pubmed

Search on Pubmed

Overgrowth syndrome and Mosaicism


Experimental approaches to assess melanocytes mosaicism in segmental vitiligo.
Dellatorre G et al.

Dellatorre G et al.
Experimental approaches to assess melanocytes mosaicism in segmental vitiligo.
An Bras Dermatol. 2023 , 98, (2):216-220.


Vitiligo is an autoimmune disease of the skin that results in localized or disseminated white macules. One common feature of several existing classification protocols is the distribution of the disease into two main subtypes, non-segmental vitiligo (NSV) and segmental vitiligo (SV). SV is characterized by depigmentation spreading within one or more skin segments while NSV is widespread. Several clinical-epidemiological observations suggest that SV has distinct autoimmune pathophysiology (...)

See on Pubmed

Injury prevents Ras mutant cell expansion in mosaic skin.
Gallini S et al.

Gallini S et al.
Injury prevents Ras mutant cell expansion in mosaic skin.
Nature. 2023 Jul , 619, (7968):167-175.


Healthy skin is a mosaic of wild-type and mutant clones. Although injury can cooperate with mutated Ras family proteins to promote tumorigenesis, the consequences in genetically mosaic skin are unknown. Here we show that after injury, wild-type cells suppress aberrant growth induced by oncogenic Ras. Hras and Kras cells outcompete wild-type cells in uninjured, mosaic tissue but their expansion is prevented after injury owing to an increase in the fraction of proliferating wild-type cells. (...)

See on Pubmed

Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature.
Cavaillé M et al.

Cavaillé M et al.
Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature.
BMC Med Genomics. 2023 Jul 13, 16, (1):166.


PTEN hamartoma syndrome (PHTS) is an autosomal dominant disorder characterized by pathogenic variants in the tumor suppressor gene phosphatase and tensin homolog (PTEN). It is associated with an increased risk of muco-cutaneous features, hamartomatous tumors, and cancers. Mosaicism has been found in a few cases of patients with de novo PHTS, identified from blood samples. We report a PHTS patient with no variant identified from blood sample. Constitutional PTEN mosaicism was detected (...)

See on Pubmed

Search on Pubmed

Incontinentia Pigmenti


Central nervous system anomalies in 41 Chinese children incontinentia pigmenti.
Yin L et al.

Yin L et al.
Central nervous system anomalies in 41 Chinese children incontinentia pigmenti.
BMC Neurosci. 2024 May 21, 25, (1):25.


Incontinentia pigmenti (IP) is a rare neuroectodermal dysplasia caused by a defect in the IKBKG gene. The pathogenesis of central nervous system injury is believed to be related to microvascular ischemia. Currently, few treatment strategies are available for the inflammatory phase.

See on Pubmed

NF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections.
Herlin LK et al.

Herlin LK et al.
NF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections.
J Clin Immunol. 2024 May 25, 44, (6):136.

See on Pubmed

Whorled Scarring Alopecia: A Rare Cutaneous Finding in Incontinentia Pigmenti or Overlooked Phenomenon? A Case Report of Incontinentia Pigmenti with Trichoscopic and Dermoscopic Findings.
Çetinarslan T et al.

Çetinarslan T et al.
Whorled Scarring Alopecia: A Rare Cutaneous Finding in Incontinentia Pigmenti or Overlooked Phenomenon? A Case Report of Incontinentia Pigmenti with Trichoscopic and Dermoscopic Findings.
Acta Derm Venereol. 2024 Jun 11, 104:adv40270.

See on Pubmed

Search on Pubmed

News

10/06/24 Focus on... 

BUR-EB Project

Follow us

Newsletter