Recent publications on genodermatoses

Kaushik H et al.
A cross-sectional study to find association of VDR gene polymorphism with non-syndromic congenital ichthyosis and with vitamin D deficiency.
Arch Dermatol Res. 2023 Apr , 315, (3):551-557.

Though development of vitamin D deficiency and rickets in patients with congenital ichthyosis (CI) have recently been observed, yet exact cause of such association is not properly understood. To evaluate association between Vitamin D Receptor (VDR) polymorphism and CI, and to identify risk factors responsible for development of vitamin D deficiency in ichthyosis. In this cross-sectional study, detailed history of patients and controls was noted and certain biochemical investigations were (...)

Frommherz L et al.
Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2.
J Eur Acad Dermatol Venereol. 2023 Apr , 37, (4):817-822.

Most cases of hereditary ichthyoses present with generalized scaling and skin dryness. However, in some cases skin involvement is restricted to particular body regions as in acral lamellar ichthyosis.

Demir E et al.
Neonatal ichthyosis-sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature.
Clin Dysmorphol. 2023 Apr 01, 32, (2):88-91.

Banner L et al.
A novel KRT14 null mutation leads to autosomal recessive epidermolysis bullosa simplex.
Clin Exp Dermatol. 2023 Mar 22, 48, (4):431-433.

Schneider C et al.
Novel frameshift mutation in the noncollagenous region of the COL7A1 gene in pretibial epidermolysis bullosa.
Int J Dermatol. 2023 Apr , 62, (4):e204-e205.

Oldakovskiy V et al.
Our experience of using Losartan for esophageal stenosis in children with dystrophic form of congenital epidermolysis bullosa.
J Pediatr Surg. 2023 Apr , 58, (4):619-623.

Dystrophic epidermolysis bullosa (DEB) is one of the most severe forms of congenital epidermolysis bullosa and characterized by the formation of many surgical complications. Esophageal stenosis is a common complication of DEB and occurs in almost 76% of cases. Balloon dilatation (BD) under X-ray control is the main therapeutic technique, however conservative treatment is necessary to prevent restenosis. The use of the drug losartan is promising due to its antifibrotic effect through the (...)

van den Heuvel D et al.
A disease-associated XPA allele interferes with TFIIH binding and primarily affects transcription-coupled nucleotide excision repair.
Proc Natl Acad Sci U S A. 2023 Mar 14, 120, (11):e2208860120.

XPA is a central scaffold protein that coordinates the assembly of repair complexes in the global genome (GG-NER) and transcription-coupled nucleotide excision repair (TC-NER) subpathways. Inactivating mutations in XPA cause xeroderma pigmentosum (XP), which is characterized by extreme UV sensitivity and a highly elevated skin cancer risk. Here, we describe two Dutch siblings in their late forties carrying a homozygous H244R substitution in the C-terminus of XPA. They present with mild (...)

Khalid F et al.
TFIIH mutations can impact on translational fidelity of the ribosome.
Hum Mol Genet. 2023 Mar 20, 32, (7):1102-1113.

TFIIH is a complex essential for transcription of protein-coding genes by RNA polymerase II, DNA repair of UV-lesions and transcription of rRNA by RNA polymerase I. Mutations in TFIIH cause the cancer prone DNA-repair disorder xeroderma pigmentosum (XP) and the developmental and premature aging disorders trichothiodystrophy (TTD) and Cockayne syndrome. A total of 50% of the TTD cases are caused by TFIIH mutations. Using TFIIH mutant patient cells from TTD and XP subjects we can show that (...)

Tsujimoto M et al.
Clinical trial on the efficacy and safety of NPC-15 for patients with xeroderma pigmentosum exaggerated sunburn reaction type: XP-1 study protocol for a multicentre, double-blinded, placebo-controlled, two-group crossover study followed by a long-term open study in Japan.
BMJ Open. 2023 Mar 22, 13, (3):e068112.

Xeroderma pigmentosum (XP) is a rare intractable disease without a fundamental treatment, presenting with severe photosensitivity, freckle-like pigmented and depigmented maculae and numerous skin cancers before the age of 10 years without strict sun protection. About 70% of the patients exhibit extremely severe sunburn reactions and most of them develop neurological symptoms, including sensorineural hearing impairment and progressive peripheral and central nervous disorders beginning from (...)

Clabbers JMK et al.
Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene.
J Eur Acad Dermatol Venereol. 2023 Apr , 37, (4):e486-e490.

Arteaga-Henriquez M et al.
Bart-Pumphrey syndrome and recurrent cholesteatoma: a casual association?
Int J Dermatol. 2023 Apr , 62, (4):e243-e244.

Valek SA et al.
Spiny keratoderma: A review of case reports and histopathological descriptions.
J Cutan Pathol. 2023 Apr , 50, (4):371-377.

Spiny keratoderma (SpK) is a rare skin condition characterized by spine-like papules on the palms and soles. The condition is identified under several names such as "music box spine keratosis" and "palmoplantar filiform hyperkeratosis," creating ambiguity in the diagnostic and histopathologic features of the disease. In this study, we reviewed 84 cases of SpK to examine patient demographics, medical history, clinical and histopathological descriptions, and sporadic versus hereditary onset. (...)

Voudouri M et al.
Fatal Retroperitoneal Bleeding in Neurofibromatosis Type 1: A Clinically Occult Complication.
Am J Forensic Med Pathol. 2023 Mar 01, 44, (1):63-67.

Neurofibromatosis type 1 (NF1) is a common, autosomal dominant neurocutaneous syndrome. The most frequent clinical manifestations include multiple neurofibromas, café-au-lait spots, dystrophic scoliosis, benign and malignant peripheral nerve sheath tumors, and paragangliomas. Neurofibromatosis type 1 vasculopathy is a less well-recognized constellation of vascular pathologies that can cause significant medical complications in patients with NF1. A rare manifestation of this process is (...)

Nakato D et al.
Familial café-au-lait macules associated with in-frame deletion of NF1 p.Met992del mimicking Legius syndrome.
Congenit Anom (Kyoto). 2023 Mar , 63, (2):54-55.

García-Martínez FJ et al.
[Translated article] Neurofibromatosis Type 1: Diagnostic Timelines in Children.
Actas Dermosifiliogr. 2023 Mar , 114, (3):T187-T193.

Diagnosis of neurofibromatosis 1 (NF1) diagnosis is challenging in young children without a family history of NF1. The aims of this study were to estimate diagnostic delays in children without a family history of NF1 and to examine the effects of considering café-au-lait macules and skinfold freckling as a single diagnostic criterion.

Aubert-Mucca M et al.
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
J Med Genet. 2023 Apr , 60, (4):337-345.

Ellis-Van Creveld (EVC) syndrome is one of the entities belonging to the skeletal ciliopathies short rib-polydactyly subgroup. Major signs are ectodermal dysplasia, chondrodysplasia, polydactyly and congenital cardiopathy, with a high degree of variability in phenotypes ranging from lethal to mild clinical presentations. The and genes are the major genes causative of EVC syndrome. However, an increased number of genes involved in the ciliopathy complex have been identified in EVC (...)

Hu M et al.
Outcomes of Microcatheter-Assisted Trabeculotomy for Glaucoma Associated With Sturge-Weber Syndrome and Phakomatosis Pigmentovascularis.
Am J Ophthalmol. 2023 Apr , 248:51-59.

To evaluate mid-term efficacy and safety of ab externo Microcatheter-assisted trabeculotomy (MAT) for early-onset glaucoma associated with Sturge-Weber syndrome (SWS) and phakomatosis pigmentovascularis (PPV).

Zaersabet M et al.
Homozygosity for a novel DOCK6 variant in an individual without aplasia cutis congenita of the scalp and terminal transverse limb defects.
Clin Dysmorphol. 2023 Apr 01, 32, (2):84-87.

Colonna MB et al.
Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.
Hum Mol Genet. 2023 Feb 19, 32, (5):732-744.

Mono- and bi-allelic variants in ALDH18A1 cause a spectrum of human disorders associated with cutaneous and neurological findings that overlap with both cutis laxa and spastic paraplegia. ALDH18A1 encodes the bifunctional enzyme pyrroline-5-carboxylate synthetase (P5CS) that plays a role in the de novo biosynthesis of proline and ornithine. Here we characterize a previously unreported homozygous ALDH18A1 variant (p.Thr331Pro) in four affected probands from two unrelated families, and (...)

De Feyter S et al.
ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.
J Inherit Metab Dis. 2023 Mar , 46, (2):163-173.

In patients with ATP7A-related disorders, counseling is challenging due to clinical overlap between the entities, the absence of predictive biomarkers and a clear genotype-phenotype correlation. We performed a systematic literature review by querying the MEDLINE and Embase databases identifying 143 relevant papers. We recorded data on the phenotype and genotype in 162 individuals with a molecularly confirmed ATP7A-related disorder in order to identify differentiating clinical criteria, (...)

Krarup NT et al.
Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21-year-old female with an intronic mutation in the elastin gene.
Am J Med Genet A. 2023 Apr , 191, (4):1059-1064.

Cutis laxa (CL) is a rare, inherited or acquired connective tissue disorder characterized by abnormal elastic fibers causing loose and redundant skin and a prematurely aged appearance. The syndrome has been associated with hypertension, but cases with early-onset ischemic heart disease have never been described. Here, we report a 21-year-old Danish female with activity-related shortness of breath and oedema of the lower extremities. The patient had a clinical diagnosis of autosomal dominant (...)

Amberger A et al.
Degradation of collagen I by activated C1s in periodontal Ehlers-Danlos Syndrome.
Front Immunol. 2023 , 14:1157421.

Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, lack of attached gingiva and thin and fragile gums leading to gingival recession. Connective tissue abnormalities of pEDS typically include easy bruising, pretibial plaques, distal joint hypermobility, hoarse voice, and less commonly manifestations such as organ or vessel rupture. pEDS is caused by heterozygous missense mutations in and (...)

Baykal S et al.
An unexpected clinical presentation in periodontal Ehler-Danlos syndrome: preterm birth, profound intellectual disability and self-injurious behavior.
Clin Dysmorphol. 2023 Apr 01, 32, (2):65-69.

Wang P et al.
Spontaneous intrapulmonary haemorrhage in vascular Ehlers-Danlos syndrome.
Thorax. 2023 Apr , 78, (4):424-425.

Martinez-Falero BS et al.
Pigmentary anomaly caused by mosaic 3q22.2q29 duplication.
Clin Exp Dermatol. 2022 Dec , 47, (12):2342-2345.

A 39-year-old woman sought advice regarding potential risks to her offspring due to previous possible diagnosis of incontinentia pigmenti. She had linear hyperpigmentation along the lines of Blaschko affecting the upper and lower limbs, and skin-coloured papules on the left palm. Ophthalmoscopy revealed hypopigmented spots in the macular region of the retina in each eye due to focal areas of depigmentation of the retinal pigment epithelium. An array comparative genomic hybridization on DNA (...)

Happle R et al.
Superimposed mosaicism in cutaneous sarcoidosis: A hypothesis.
Am J Med Genet A. 2023 Mar , 191, (3):899-901.

Sarcoidosis is a chronic granulomatous disorder affecting the lungs, skin, and many other organs. Twin studies suggest that genetic factors account, to a large degree, for the etiology of the disorder. Hence, theoretically, we could postulate that the phenomenon of superimposed mosaicism in the form of a pronounced segmental involvement, overlaying the disseminated non-segmental lesions, should also occur in sarcoidosis. Indeed, one case suggesting superimposed mosaicism in cutaneous (...)

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 (...)

Han IC.
Retinal Vascular Disease in Incontinentia Pigmenti is the Rule rather than the Exception.
Ophthalmol Retina. 2022 Dec , 6, (12):1111-1112.

Vezzaro V et al.
Is Incontinentia Pigmenti More Serious in Males? A Report of 2 Cases.
Actas Dermosifiliogr. 2022 Dec , 113 Suppl 1:S10-S12.

Belenje A et al.
Combined rhegmatogenous and tractional retinal detachment in a child with incontinentia pigmenti managed by scleral imbrication with scleral buckle.
BMJ Case Rep. 2023 Feb 14, 16, (2).

We report for the first time a child with incontinentia pigmenti presenting with acute-onset rhegmatogenous retinal detachment in association with pre-existing tractional retinal detachment. Due to the combined nature of this detachment, complex vector forces acting on the retina makes this a difficult to treat situation. A single surgery of modified scleral imbrication with scleral buckle was effective in reattaching the retina by providing a very high buckle indent to accommodate all the (...)