Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain.

BACKGROUND: Previous reports on the prevalence of autosomal recessive congenital ichthyosis (ARCI) were based on single source data, such as lists of members in a patient association. These sources are likely to be incomplete. OBJECTIVES: We sought to describe the prevalence of ARCI. METHODS: We obtained data from 3 incomplete sources (dermatology departments, a genetic testing laboratory, and the Spanish ichthyosis association) and combined them using the capture-recapture method. RESULTS: We identified 144 living patients with ARCI. Of these, 62.5% had classic lamellar ichthyosis and 30.6% had congenital ichthyosiform erythroderma. The age distribution included fewer elderly patients than expected. The prevalence of ARCI in patients younger than 10 years, the best estimate as less subject to bias, was 16.2 cases per million inhabitants (95% confidence interval 13.3-23.0). According to the capture-recapture model, 71% of the patients were not being followed up in reference units, 92% did not have a genetic diagnosis, and 78% were not members of the ichthyosis association. LIMITATIONS: The prevalence of ARCI in Spain and findings related to the Spanish health care system might not be generalizable to other countries. CONCLUSIONS: The prevalence of ARCI is higher than previously reported. Many patients are not being followed up in reference units, do not have a genetic diagnosis, and are not members of a patient association, indicating room for improvement in their care. Data suggesting a reduced number of older patients might imply a shorter life expectancy and this requires further study.

Clinical and Pathological Features of Persistent Decorative Tattoo Reactions.

Persistent, non-infectious medical complications arising from decorative tattoos have increased considerably. They are difficult to characterize clinically, and histopathology shows a wide variety of overlapping patterns, with lichenoid and granulomatous dermatitis being the most common findings. Both clinical and pathological findings are difficult to ascribe to particular ink colour. The findings in 30 biopsies from 28 patients with persistent reactions in decorative tattoos are reported, including immunohistochemical findings.

Systemic photosensitivity due to Goji berries.

Systemic photosensitivity due to the intake of plants or herbal compounds is a rare phenomenon. Goji berries are widely used as a well-being and anti-aging remedy. In spite of this, only a few adverse reactions and no cases of photosensitivity have been reported to date. A 53-year-old male consulted due to a pruriginous eruption located on sun-exposed areas of 2 weeks of duration. He had been taking Goji berries and infusions of cat's claw herb for 5 and 3 months, respectively. Minimal erythema dose for UVB (MED-UVB) was diminished when the patient was taking these products, and became normal when they were withdrawn. Photoprovocation tests with Goji berries and cat's claw were performed. MED-UVB decreased after the intake of Goji berries, and was normal with cat's claw. We report the first case of systemic photosensitivity due to Goji berries.

Letter: Cutaneous mastocytosis with systemic involvement mimicking clinical and dermatoscopically multiple melanocytic nevi.

Mastocytosis can sometimes resemble other skin conditions, especially pigmented ones, not only clinically but also dermatoscopically. We report the case of a woman with the diagnosis of cutaneous mastocytosis mimicking multiple melanocytic nevi. Melanocytic stimulation can be induced by high levels of stem cell factor. The progressive increase in the number of pigmented lesions in a patient should lead us to perform a biopsy to search for mastocytosis.

Clinical and capillaroscopic findings in patients with liver disease and proximal apparent leukonychia (Terry nails and its variants).

ABSTRACT: Terry nails and Lindsay nails are similar forms of proximal apparent leukonychia (PAL). A change in nail bed vascularity is thought to be responsible for PAL. The study was aimed at investigating the frequency of PAL in patients attending a liver disease clinic, the factors associated with its presence, its value for detecting cirrhosis, its prognostic value for mortality, and associated capillaroscopic findings.A total of 521 patients were included (age range, 18-94 years; 69% men). Systematic nail photographs were evaluated by 2 independent investigators. Disease-related data were obtained from the medical records. Mortality was evaluated after 7 years of follow-up. Nailfold capillaroscopy was performed on a subset of 80 patients.PAL was present in 228 patients (43.8%; Terry nails in 205, Lindsay nails in 20, and both in 3). The kappa-coefficient of interobserver agreement was 0.82. The presence of PAL was associated with cirrhosis and, accordingly, with portal hypertension and hepatocellular dysfunction. The positive likelihood ratio of PAL for the diagnosis of cirrhosis was 1.6 (95% CI 1.3-1.92). PAL was independently associated with chronic alcohol abuse and was not a significant predictor of mortality. Venous loop dilatation and prominence of the venous plexus were observed on capillaroscopy in patients with cirrhosis but were not significantly associated with PAL.In summary, PAL is a common finding in patients from a liver clinic; it is associated with liver cirrhosis and with alcohol abuse. PAL is not associated with specific capillaroscopic findings. We propose the generic term proximal apparent leukonychia instead of classic eponymous titles to avoid confusion in the literature.

Ulcerated dermatofibroma with osteoclast-like giant cells.

BACKGROUND: Ulceration and osteoclast-like giant cells are two pathological features uncommonly seen in dermatofibromas. To our knowledge, the presence of these features has not been previously described within the same lesion. METHODS: We report the clinical, histopathological and immunohistochemical findings of a 38-year-old man with an ulcerated dermatofibroma (DF) on the sole containing OLGC. COMMENTS: DF, or cutaneous fibrous histiocytoma, is a frequent dermatological lesion with many clinicopathological variants. Therefore, a correct diagnosis is not always straightforward, especially when two rare features co-exist in the same lesion. Differential diagnosis was performed with cutaneous and even non-cutaneous lesions. An explanation for the clinicopathological findings is also described.

Role of positron emission tomography in the management of neurocutaneous melanocytosis.

Management of large congenital melanocytic nevi and neurocutaneous melanocytosis represents a difficult challenge for clinicians, due to the high risk of malignancy in both entities and the difficulty of an early diagnosis of this complication. We report a new case of neurocutaneous melanocytosis (NCM) in association with large congenital melanocytic nevi (LCMN) that illustrates a possible role of positron emission tomography in the work-up of these patients.

[Sweet's syndrome]. / Síndrome de Sweet.

Sweet's syndrome represents the epitome of the neutrophilic dermatosis, a group of reactive cutaneous diseases characterized histopathologically by the existence of an infiltrate composed by neutrophils. Clinically, it is characterized by the abrupt onset of tender or painful plaques accompanied by fever, general malaise, and neutrophilic leukocytosis. Sweet's syndrome is a marker of several internal conditions, especially infections, inflammatory bowel disease, autoimmune disorders, and malignant neoplasm (predominantly of hematological origin). Sweet's syndrome reflects a neutrophilic reaction that affects the skin and sometimes internal organs. For this reason it is important to reach a correct diagnosis and assess appropriately both the triggering factors and the concomitant internal involvement. There are several therapeutic approaches that achieve either the resolution or the satisfactory management of this condition.

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.

BACKGROUND: Autosomal recessive congenital ichthyoses (ARCI) have been associated with different phenotypes including: harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While pathogenic variants in all ARCI genes are associated with LI and CIE phenotypes, the unique gene associated with HI is ABCA12. In HI, the most severe ARCI form, pathogenic variants in both ABCA12 gene alleles usually have a severe impact on protein function. The presence of at least one non-truncating variant frequently causes a less severe congenital ichthyosis phenotype (LI and CIE). METHODS: We report the case of a 4-year-old Ecuadorian boy with a severe skin disease. Genetic diagnosis was performed by NGS. In silico predictions were performed using Alamut software v2.11. A review of the literature was carried out to identify all patients carrying ABCA12 splice-site and missense variants, and to explore their genotype-phenotype correlations. RESULTS: Genetic testing revealed a nonsense substitution, p.(Arg2204*), and a new missense variant, p.(Val1927Leu), in the ABCA12 gene. After performing in silico analysis and a comprehensive review of the literature, we conclude that p.(Val1927Leu) affects a well conserved residue which could either disturb the protein function or alter the splicing process, both alternatives could explain the severe phenotype of our patient. CONCLUSION: This case expands the spectrum of ABCA12 reported disease-causing variants which is important to unravel genotype-phenotype correlations and highlights the importance of missense variants in the development of HI.

Disseminated superficial porokeratosis with amyloid deposits.

We report a 65-year-old Caucasian man who exhibited a disseminated superficial porokeratosis. Histological examination with haematoxylin and eosin stain revealed the presence of dermal deposits of an eosinophilic amorphous material that stained positively with crystal violet and showed bright yellow fluorescence with thioflavin-T under the polarizing microscopy, indicating that it was amyloid. Colloid bodies from porokeratotic lesions can degenerate into amyloid, but it is not usually detected with haematoxylin and eosin stains because of its small quantity. Probably amyloid deposits could be detected more frequently in porokeratosis if histochemical techniques were carried out in a routine way.

Reticular erythematous mucinosis (REM) with telangiectasias associated with essential thrombocytosis and lung carcinoma.

The cutaneous mucinoses are a heterogeneous group of diseases in which mucin accumulates in the skin. Reticular erythematous mucinosis (REM) is an infrequent variant. We present a 48-year-old man with essential thrombocytosis and REM lesions with atypical telangiectasias on his chest, who developed a non-small cell lung carcinoma. We discuss the unusual clinical finding of telangiectasias over REM lesions and the association with essential thrombocytosis and lung carcinoma.

Immunohistochemical evaluation of EGFR expression in lip squamous cell carcinoma. Correlation with clinicopathological characteristics.

BACKGROUND: The majority of lip cancer is the squamous cell carcinoma (SCC) type that exhibits clinical and biological characteristics intermediate between skin and oral SCC. The aim of this study was to assess the impact of epidermal growth factor receptor (EGFR) expression on prognosis of lip squamous cell carcinoma (LSCC) and to relate it with clinicopathological features. The role of EGFR expression as a possible therapeutic target was also discussed. METHODS: A series of 55 patients with LSCC was analyzed. EGFR expression was determined by standardized immunohistochemistry (pharmDx assay) and evaluated by both manual and automated image analysis (ACIS III). The Kappa statistic test was used to evaluate the concordance of manual and automated scores. EGFR results were correlated with clinicopathologic characteristics. Statistical differences between proportions were determined by the chi-squared test (with linear-by-linear correction where appropriate). The Mann-Whitney and the Kruskal-Wallis test were employed for comparison of continuous variables. RESULTS: Correlation between manual and automated score was obtained in 50/55 cases (90.9%). EGFR expression was absent or weak in 14 cases (25.5%); borderline (2+) in 20 cases (36.4%) and positive (3+) in 21 cases (38.2%). Significant relationships were found between EGFR expression and tumour ulceration (p=0.022) and tumour thickness (p=0.002) and width (p=0.021). CONCLUSIONS: Our results revealed EGFR high expression in LSCC and its relationship with bad prognosis criteria (tumour size and ulceration).