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.

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

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 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.

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.

Multiple local and recent founder effects of TGM1 in Spanish families.

Background: Mutations in the TGM1 gene encoding transglutaminase 1 are a major cause of autosomal recessive congenital ichthyosis. In the Galician (NW Spain) population, three mutations, c.2278C>T, c.

Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis.

Background: Autosomal recessive congenital ichthyosis (ARCI) is a rare, nonsyndromic, heterogeneous disorder of cornification. It is divided into three clinical subtypes: lamellar ichthyosis (LI); congenital ichthyosiform erythroderma; and harlequin ichthyosis. In the majority of patients, LI is caused by transglutaminase-1 (TGase1) deficiency resulting from mutations in both copies of the transglutaminase 1 (TGM1) gene in chromosome 14.

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.

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.

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.

Lamellar ichthyosis with a novel homozygous C-terminal mutation in the transglutaminase-1 gene.

Background: The majority of cases of Lamellar ichthyosis (LI) are caused by mutations in the transglutaminase-1 (TGM1) gene. The mutations in the beta-barrel domains of the TGM1 gene are found very infrequently and several authors have suggested that these domains are not essential for the function of the enzyme. Other authors have postulated that mutations in these loci are pathogenic but they imply a less severe clinical picture of LI.

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.

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].

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).

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare inherited condition that includes characteristic eyelid malformations and sometimes reduced fertility in females. Genetic studies have implicated mutations in the forkhead transcription factor FOXL2 as responsible for BPES. We report a female and her father with BPES type I, who presented the 1092-1108dup17 mutation in the FOXL2 gene.