Skin cancers are associated with a large number of genodermatoses. Existing knowledge and guidelines on the presentations of these genodermatoses focus disproportionately on White patients. Our goal is to identify notable characteristics in location, frequency, and severity of cutaneous findings along with the median age of skin cancers in skin-of-color (SOC) patients with skin-cancer-associated genodermatoses to improve diagnosis rates. We searched for genodermatoses on six databases. Each case report or case series was reviewed, including reports, published in English, containing adult patient descriptions. Duplicate manuscripts were removed using EndNote. The following case-level data were collected from the manuscripts: age, gender, patient country or region of origin, author country/continent of residence, skin cancer-related, and other key dermatologic features. 381 published articles, with a total of 578 SOC patients, met criteria for inclusion. SOC patients can present with fewer classic findings, such as a lower incidence of basal cell carcinomas (44%) in SOC Gorlin syndrome patients than palmar pits (66%) and mandibular cysts (66%). Differences between SOC populations were also noted, such as leukoplakia being more common in Asian dyskeratosis congenita patients (80%) in comparison to African dyskeratosis congenita patients (44%). SOC patients also have varying onset of skin cancer depending on the genodermatosis, from a median of 25 years of age in Rothmund-Thomson syndrome to 53 in Muir-Torre syndrome. In this review, SOC patients with genodermatoses can have varying presentations. Being cognizant of these characteristics may lead to earlier diagnosis and interventions to mitigate skin-cancer-related morbidity in SOC patients.

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VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic mutation) syndrome is a novel autoinflammatory, late-onset, disorder first identified in 2020. It is caused by mutations in the UBA1 gene. The most prominent clinical features reported by VEXAS patients are cutaneous and haematological, having characteristic skin features reported as the initial presenting findings of the disease. VEXAS is a severe and treatment-resistant condition with high morbidity and mortality rates. Here, we examine all case reports and case series of VEXAS syndrome through March 2023 focusing on those presenting cutaneous manifestations. We discuss these manifestations and their reported treatment strategies. In many cases, it might be first suspected and diagnosed by dermatologists, highlighting their vital role in initiating timely multidisciplinary care.

Macular amyloidosis (MA) is a primary localized cutaneous amyloidosis, characterized by amyloid deposition in the papillary dermis. The clinical presentation includes pruritic hyperpigmented macules and patches with a reticulated or rippled pattern, primarily found on the upper back and extremities. Biopsy is an essential diagnostic tool for confirming MA. This systematic review focused on the biopsy outcomes in patients diagnosed with MA.

Gout with associated AA amyloidosis is an unusual finding. This form of amyloid is associated with chronic inflammatory changes often associated with amyloid deposits in the urine, as well as tissue involvement, and organ enlargement in some cases. The large majority of cases in the literature to date refer to gout with AA amyloid within the kidney. However, this is not exclusive, with reports in the liver, gastrointestinal tract, adrenal glands rectum, skin, and subcutaneous fat. The pathophysiological association between these two disease processes is open to debate. The employment of specific anti-inflammatory treatments is believed to have an impact on reducing the incidence of AA amyloidosis in some gout cases-notably the use of colchicine in cases of clinically defined gout attacks. However, this is by no means a universal finding. Here we report on a cutaneous case of gout with AA amyloidosis in a 73-year-old man Included in this case study is a review of the other 16 cases reported within the literature in an attempt to clarify the associated pathophysiological process between these two diseases and the anti-inflammatory treatment regimens employed which may impact the occurrence of AA amyloidosis.

Conventionally, leprosy has been divided into various spectra of presentation ranging from the tuberculoid to the lepromatous pole, as well as histoid, pure neuritic leprosy and reactional states. This however is an oversimplification as leprosy can present in unusual clinical forms that may obfuscate the diagnosis. Our objective was to highlight unusual clinical presentations of leprosy occurring across all spectra of the disease. Our case series describes eight uncommon presentations of leprosy seen over a period of 10 y from 2011 to 2021, wherein clinical diagnosis followed by a histopathological confirmation of leprosy was performed. These include rare presentations such as psoriasiform plaques, Lazarine leprosy, verrucous plaques and hypertrophic scarring. Many of these rare presentations remain hitherto unreported, such as primary hypogonadism and annular plaques mimicking erythema annulare centrifugum and erythema gyratum repens. Sarcoidosis and syphilis have been labeled as great mimickers in dermatology. The current case series and review is an attempt to highlight a multitude of unusual presentations of leprosy that need a separate mention to make a correct and timely diagnosis and prevent the debilitating sequelae of this otherwise treatable infectious disease.

Since the beginning of human genetic research, there are very few publications sharing insights of the negative impact of rare genetic skin diseases (RGSD) on patients\' experiences. This systematic review assessed the psychosocial implications of these conditions in terms of daily life experiences, emotional state, self-perception, and Quality of Life (QoL).
A systematic review was carried out on albinism, neurofibromatosis type 1 (NF1), birthmarks and inherited ichthyosis. The PubMed, Scopus, PsycArticle, PsychInfo, Psychology and Behavioral Sciences Collection, and SOCindex databases were queried. Inclusion criteria were adult patients with one of these RGSDs. Simple descriptive statistics and qualitative content analysis were conducted to summarize the main results reported by the authors.
Of the 9987 articles retrieved, 48 articles were included: albinism (16), NF1 (16), inherited ichthyosis (10), birthmarks (6). The majority of the studies on albinism were conducted in Africa. Twenty-seven studies quantitatively assessed diverse psychological parameters: 13 showed a significant impact of the disease on QoL, five on emotional state, two on self-representation and two others on psychiatric comorbidities. Disease severity and visibility were good predictors of QoL (except for albinism). Body image and appearance concerns were also associated with QoL and emotional state. The 19 qualitative studies highlighted recurring themes across each of these diseases: discrimination and stigma during childhood and adolescence, discomfort in social interactions, guilt of transmission, the importance of social support from family and friends, altered daily life functioning, altered romantic and sex life, limited academic and professional aspirations, lack of interest and support from the medical field, and the unpredictability of the evolution of the disease. The only two mixed-method studies in this review were unable to contribute to any inferential analyses but could corroborate some of the qualitative findings.
These results showed that RGSDs have a significant impact on different aspects of patients\' lives. This review has demonstrated that there is a real need for support systems for patients with these diseases. Such systems should be developed to provide them with necessary information and to guide them through an appropriate care pathway.

Autosomal dominant variants in ELOVL4 cause spinocerebellar ataxia type 34 (SCA34; ATX-ELOVL4), classically associated with a skin condition known as erythrokeratoderma. Here, we report a large Italian-Maltese-Australian family with spinocerebellar ataxia. Notably, while there were dermatological manifestations (eczema), erythrokeratoderma was not present. Using a next-generation sequencing panel, we identified a previously reported ELOVL4 variant, NM_022726.4: c.698C > T p.(Thr233Met). The variant was initially classified as a variant of uncertain significance; however, through segregation studies, we reclassified the variant as likely pathogenic. We next identified an individual from another family (Algerian-Maltese-Australian) with the same ELOVL4 variant with spinocerebellar ataxia but without dermatological manifestations. We subsequently performed the first dedicated literature review of ELOVL4-associated ataxia to gain further insights into genotype-phenotype relationships. We identified a total of 60 reported cases of SCA34 to date. The majority had gait ataxia (88.3%), limb ataxia (76.7%), dysarthria (63.3%), and nystagmus (58.3%). Of note, skin lesions related to erythrokeratoderma were seen in a minority of cases (33.3%). Other extracerebellar manifestations included pyramidal tract signs, autonomic disturbances, retinitis pigmentosa, and cognitive impairment. For brain MRI data, cerebellar atrophy was seen in all cases (100%), whereas the hot cross bun sign (typically associated with multiple system atrophy type C) was seen in 32.4% of cases. Our family study and literature review highlight the variable phenotypic spectrum of SCA34. Importantly, it shows that erythrokeratoderma is not found in most cases and that, while a dermatological assessment may be helpful in these patients, SCA34 diagnosis should be considered irrespective of dermatological manifestations.

Ligneous conjunctivitis is an uncommon form of chronic and recurrent conjunctivitis characterized by a thick, \"woody,\" yellowish pseudomembranous lesion on the tarsal conjunctiva. Plasminogen deficiency plays an important role in this disease, which affects the mucous membranes, including the conjunctiva as well as other systemic organs. In rare cases, congenital hydrocephalus is associated with this disease. We present the case of a 21-year-old woman with delayed-onset bilateral ligneous conjunctivitis and a history of congenital hydrocephalous in infancy. She was treated with topical ophthalmic medication and surgical excision.

A 39-year-old woman presented with a 4-year history of asymptomatic facial lesions that has progressively increased in number to become a cosmetic nuisance. These lesions have not responded to 6-months of topical 20% azelaic acid, 0.1% retinoic acid, and 20% vitamin C combination. She has had mild papulopustular acne. Her personal and family histories were unremarkable. On dermatologic examination, there were multiple flesh-colored to pigmented, firm ovoid to round papules, 2-5 mm in size, over the forehead and both cheeks (Figure 1). The dermatoscopic examination was nonspecific. Preliminary diagnoses were made of eccrine syringoma, steatocystoma multiplex, and papular elastorrhexis. A histopathologic examination from a punch biopsy displayed focal ossification within the dermis (Figure 2). Routine laboratory tests, including serum calcium, phosphorus, PTH, and vitamin D levels were within the normal ranges. A maxillofacial 3D CT scan, revealed multiple dermal and hypodermal ossifications, <3-5 mm in size-in the frontal, mandibular, and maxillary areas of the face (Figure 3). Scattered osteomas were also seen on the neck. A definitive diagnosis of multiple miliary osteoma cutis (MMOC) of the face and neck was firmly established based on clinical, histologic, and radiologic findings. Radiologically, the distribution and extent of the lesions were more pronounced than clinically anticipated. (SKINmed. 2022;20:469-471).