Eosinophilic ulcer of the oral mucosa: An update on clinicopathologic features, pathogenesis, and management

Eosinophilic ulcer of the oral mucosa is a benign, reactive, self-limited lesion. Its pathogenesis is unclear, and it clinically manifests as a punched-out ulcer with surrounding indurated border, raising suspicion for a possible malignancy. On histology, an acute and chronic dense inflammatory infiltrate can be appreciated, which can extend to the deep underlying tissue (including skeletal muscle). Eosinophils are especially conspicuous on hematoxylin and eosin staining and might play an important role in the development of the ulcer. Removal of possible triggers followed by monitoring and possible biopsy are among the initial recommendations. Most lesions heal spontaneously without the need for intervention. This review aims at assisting dermatologists to easily recognize this entity, avoiding unnecessary interventions and apprehension. © 2021 the International Society of Dermatology

Primary Localized Cutaneous Amyloidosis of Keratinocyte Origin: An Update with Emphasis on Atypical Clinical Variants

Amyloid is a protein derived from at least 20 different substances. Once misfolded, it results in a group of cutaneous and systemic conditions. Primary localized cutaneous amyloidosis of keratinocyte origin is a very common subtype that can manifest either as lichen or macular amyloidosis, lacking systemic involvement. Lichen amyloidosis often presents as multiple hyperpigmented papules on the lower extremities whereas macular amyloidosis is classically characterized by dark brown rippled macules on the interscapular area. Review of the literature reveals that in addition to the classical presentation of primary localized cutaneous amyloidosis there exists a plethora of various manifestations that can be grouped into either geographic or morphologic categories. This review provides clinicians with the intimate knowledge of these presentations and summarizes the available treatment modalities. © 2021, The Author(s), under exclusive licence to Springer Nature Switzerland AG

Genodermatoses with hearing impairment

Hearing loss is a prominent feature in multiple genodermatoses. Underappreciation of auditory deficits can misdirect proper diagnosis by the treating dermatologist. This review reviews the anatomic, developmental, and embryologic aspects that characterize the ear and summarizes genodermatoses that have aberrant auditory findings. The latter are classified into neural crest, metabolic, pigmentary, craniofacial, and a miscellaneous category of disorders lacking specific cutaneous findings. The algorithms provided in this review enable treating dermatologists to better recognize and manage genodermatoses with ear involvement. © 2021 American Academy of Dermatology, Inc

Treatments for Non-Syndromic Inherited Ichthyosis, Including Emergent Pathogenesis-Related Therapy

The term ‘inherited ichthyosis’ refers to a heterogeneous group of mendelian disorders of cornification that involve the integument with varying degrees of scaling. The management of ichthyosis poses a challenge for most physicians. Treatment options proposed in the literature include moisturizers, topical keratolytics, topical and systemic vitamin D analogues, and topical and systemic retinoids; however, some of these modalities are less reliable than others. Despite the therapeutic impasse imposed by the options above, the emergence of pathogenesis-based treatments along with novel gene therapies appear promising and hold the potential to halt or even revert disorders that arise from single genetic mutations, although research is still quite lacking in this domain. Hence, this review aims to highlight the various treatment modalities available for the management of the cutaneous manifestations of non-syndromic inherited ichthyosis, with an added emphasis on pathogenesis-targeted therapies. © 2022, The Author(s), under exclusive licence to Springer Nature Switzerland AG

Genodermatoses with behavioural sequelae

Children with genodermatoses are at an increased risk of developing behavioural disorders which may impart lasting damage on the individual and their family members. As such, early recognition of childhood mental health disorders via meticulous history taking, thorough physical examination, and disorder-specific testing is of paramount importance for timely and effective intervention. If carried out properly, prompt psychiatric screening and intervention can effectively mitigate, prevent or even reverse, the psychiatric sequela in question. To that end, this review aims to inform the concerned physician of the manifestations and treatment strategies relevant to the psychological sequelae of genodermatoses. © Author(s) (or their employer(s)) 2022

FOXI2: A possible gene contributing to ectodermal dysplasia

Background: Cardio-facio-cutaneous syndrome (CFC), Noonan syndrome (NS), and Costello syndrome are a group of diseases that belong to the RASopathies. The syndromes share clinical features making diagnosis a challenge. Objectives: To investigate the phenotype and genotype of a 10-year-old Iraqi girl with overlapping features of CFC, NS, and Costello syndromes, with additional features of ectodermal dysplasia. Materials & methods: DNA was examined by exome sequencing and protein expression by immunohistochemistry. Results: Exome sequencing identified a mutation in the SOS1 gene and a de novo deletion in the FOXI2 gene which was neither present in the international databases, nor in 400 chromosomes from the same population. Based on immunohistochemical staining, FOXI2 was identified in the basal cell layer of the skin and overlapped with the expression of P63, a major player in ectodermal dysplasia. Conclusion: We therefore suggest screening for FOXI2 mutation in the setting of ectodermal features that are not associated with genes known to contribute to ectodermal dysplasia. © 2017, John Libbey Eurotext. All rights reserved

Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form

Background: Sitosterol is the most abundant plant sterol found in our diet. Sitosterolemia (OMIM 210250), also known as phytosterolaemia, is a rare autosomal recessive disease caused by the inability to efficiently excrete plant sterol, and is characterized by cutaneous xanthomas and accelerated atherosclerosis. Sitosterolaemia is caused by homozygous or compound heterozygous mutations in either ABCG5 or ABCG8 (both on chromosome 2p21), which encode the sterol efflux transporter ABCG5 (sterolin-1) and ABCG8 (sterolin-2), respectively. Objectives: To investigate a Tunisian family with several members who manifested with generalized cutaneous xanthomas, whereas others had only isolated xanthelasmas. Materials & methods: Genetic analysis was performed based on exome sequencing of DNA obtained from five affected individuals and one unaffected individual from a Tunisian family. Results: A novel mutation in the ABCG8 gene, designated c.965-1G>C, was identified by exome sequencing in the members of this family. The homozygous form was associated with generalized cutaneous xanthomatosis while the heterozygous form was linked to isolated xanthelasmas. Conclusion: Our results indicate a gene dosage effect of ABCG8 and suggest that individuals at risk should be followed closely. © 2017 John Libbey Eurotext