Acrokeratosis paraneoplastica (Bazex syndrome) as the presenting sign of pancreatic adenocarcinoma.

Acrokeratosis paraneoplastica (Bazex syndrome) is a rare paraneoplastic skin condition characterised by acral psoriasiform plaques, with a predilection for the nose, ears, hands and feet. It typically presents before the discovery of an internal malignancy and is often misdiagnosed as an inflammatory dermatitis that does not respond to treatment. It is associated with squamous cell carcinoma of the aerodigestive tract and lung, as well as adenocarcinoma of the lung, colon and gastrum. Here, we describe the second reported case of Bazex syndrome in the setting of pancreatic adenocarcinoma and the first such case in a patient of African ancestry.

Is there a role for blood purification therapies targeting cytokine storm syndrome in critically severe COVID-19 patients?

The coronavirus disease-19 (COVID-19) has spread over many countries and regions since the end of 2019, becoming the most severe public health event at present. Most of the critical cases developed multiple organ dysfunction, including acute kidney injury (AKI). Cytokine storm syndrome (CSS) may complicate the process of severe COVID-19 patients. This manuscript reviews the different aspects of blood purification in critically ill patients with AKI and increased inflammatory factors, and examines its potential role in severe COVID-19 treatment. Continuous renal replacement therapy (CRRT) has been practiced in many sepsis patients with AKI. Still, the timing and dosing need further robust evidence. In addition to the traditional CRRT, the high-throughput membrane with adsorption function and cytokine adsorption column are two representatives of recently emerging novel membrane technologies. Their potential in removing inflammatory factors and other toxins prospects for the treatment of severe COVID-19.

Hypohidrotic ectodermal dysplasia: clinical and molecular review.

Hypohidrotic Ectodermal Dysplasia (HED) is a genetic human disorder which affects structures of ectodermal origin. Although there are autosomal recessive and dominant forms, X-linked (XL) is the most frequent form of the disease. This XL-HED phenotype is associated with mutations in the gene encoding the transmembrane protein ectodysplasin-1 (EDA1), a member of the TNFα-related signaling pathway. The proteins from this pathway are involved in signal transduction from ectoderm to mesenchyme leading to the development of ectoderm-derived structures in the fetus such as hair, teeth, skin, nails, and eccrine sweat glands. The aim of this review was to update the main clinical characteristics of HED regarding to recent molecular advances in the comprehension of all the possible genes involved in this group of disorders since it is known that Eda-A1-Edar signaling has multiple roles in ectodermal organ development, regulating their initiation, morphogenesis, and differentiation steps. The knowledge of the biological mechanisms that generate HED is needed for both a better detection of possible cases and for the design of efficient prevention and treatment approaches.

Bazex syndrome in a patient with head and neck malignancy.

Bazex syndrome (acrokeratosis paraneoplastica) is an uncommon dermatologic condition associated with an underlying malignancy, most commonly squamous cell carcinomas of the head and neck. This article describes Bazex syndrome in a 56-year-old woman who presented with bilateral cervical lymphadenopathy and a mass at the base of her tongue.

Bimatoprost for the treatment of eyelash, eyebrow and scalp alopecia.

INTRODUCTION: Alopecia is a common condition observed among people of all ages. It is a disorder that can involve only the scalp as observed in androgenetic alopecia or scalp and body as in alopecia areata or patients under chemotherapy treatment. There are several treatment options with different safety and efficacy outcomes. Bimatoprost, a synthetic prostamide F2α analog originally approved for the treatment of ocular hypertension and open-angle glaucoma, is now FDA approved as a 0.03%, solution to be applied once daily to increase eyelashes growth. Areas covered: In this review, the authors evaluate the role of bimatoprost in idiopathic hypotrichosis of the eyelashes, in hypotrichosis of the eyelashes associated to chemotherapy, in alopecia areata of the eyelashes and eyebrows and in androgenetic alopecia. In addition, pharmacokinetics, pharmacodynamics, safety and tolerability of bimatoprost are discussed. Expert opinion: Bimatoprost will likely be the third FDA approved weapon in the fight against hair loss. Prostaglandin analogs are the only possible treatment for hypotrichosis and alopecia of the eyelashes regardless of its etiology. Eyebrow hypotrichosis due to alopecia areata or frontal fibrosis alopecia can also possibly benefit of these medications.

Seasonal leukotrichia in a German shepherd dog. A case report. / Saisonale Leukotrichie bei einem Deutschen Schäferhund. Ein Fallbericht.

Leukotrichia can be caused by a variety of metabolic and inflammatory diseases. Canine alopecia areata is a rare multifactorial benign non-scarring alopecia. This case report describes a seasonally recurrent leukotrichia associated with alopecia areata in a German shepherd dog. Important differential diagnoses were ruled out and histopathology finally confirmed the diagnosis of alopecia areata. Topical tacrolimus and hydrocortisone aceponate were ineffective. The cause for the seasonal character in this case remained undetermined.

Is it just a psoriasiform dermatitis?

Bazex syndrome (BS) is a rare paraneoplastic syndrome most frequently associated with squamous cell carcinomas of the upper aerodigestive tractand other tumours. Characteristically, cutaneous lesions precede the diagnosis of malignancy. We report a 72-year-old patient with 1-year history of acral dermatitis. The diagnosis of BS was based on the presence of psoriasiform acral dermatitis and the evidence of two simultaneous tumors (prostate adenocarcinoma and undifferentiated carcinoma ofthe submandibular gland). It is important to have this syndrome in mind since cutaneous features usually precede an underlying neoplasm.

Topical cetirizine and oral vitamin D: a valid treatment for hypotrichosis caused by ectodermal dysplasia.

BACKGROUND: Ectodermal dysplasia is a clinically and genetically heterogeneous group of inherited disorders characterized by abnormal development of two or more of the following ectodermal-derived structures: hair, teeth, nails and sweat glands. The hair is the most frequently affected structure. Hair shaft abnormalities are of great concern to these patients, but no effective treatments are available. METHODS: We describe three girls with congenital hypotrichosis (9, 5 and 6 years old) caused by ectodermal dysplasia treated with topical cetirizine solution (2 mL. once daily) and oral vitamin D supplementation (1000 IU daily). RESULTS: After 6 months of treatment, the density of hair on the scalp increased in all patients. The vellus hair was replaced by terminal hair. Hair regrowth was evaluated both from the clinical and trichoscopic point of view. CONCLUSION: We propose a combination of topical cetirizine and oral vitamin D as a rational treatment of choice in congenital hypotrichosis caused by ectodermal dysplasia.

The cutaneous manifestations of gastrointestinal malignancy.

The skin is often the herald of an underlying systemic illness, and gastrointestinal malignancies can present in numerous ways in the skin. Paraneoplastic phenomenon, such as acanthosis nigricans and tripe palm, may be the first indicator of a gastrointestinal malignancy. In addition, gastrointestinal cancers can metastasize to the skin, as described in the well-known Sister Mary Joseph's nodule. Inflammatory systemic conditions such as dermatomyositis and multicentric reticulohistiocytosis can be associated with underlying malignancy. Finally, in numerous genetic syndromes with underlying malignancies, such as Muir-Torre, recognition of the skin signs leads to early diagnosis and screening.

Acitretin amelioration of Acrokeratosis Paraneoplastica (Bazex Syndrome) in cases of incurable squamous cell carcinoma of the hypopharynx.

BACKGROUNDAcrokeratosis paraneoplastica (Bazex Syndrome) is a rare paraneoplastic syndrome and dermatosis that only arises in patients with underlying malignancy and uncommonly resolves with systemic therapy.OBJECTIVE/METHODSWe present a patient with acrokeratosis paraneoplastica that improved significantly with acitretin. We present evidence to justify costs of therapy for insurance purposes. Additionally, there is a single report of acitretin use for Bazex syndrome in the French language.RESULTSWe present a case of acrokeratosis paraneoplastica in a patient with incurable stage IV squamous cell carcinoma of the hypopharynx that significantly improved on acitretin.CONCLUSIONAlthough acrokeratosis paraneoplastica most often is cured by treatment of the underlying squamous cell carcinoma, this case highlights the potential benefit of early initiation of acitretin during malignancy work up and staging. This therapy may also be valuable for patients in which the primary malignancy is unresectable or incurable.

[Ectodermal Capdepont syndrome and oral prosthetic rehabilitation. About a clinical case]. / Syndrome ectodermique de Capdepont et réhabilitation orale prothétique. A propos d'un cas Clinique.

The authors describe the ectodermal Capdepont syndrome as an anomaly characterized by anhidrosis, hypotrichosis and anodontia diagnosed in a 22 year-old adult. In front of this anodontia, oral prosthetic rehabilitation remains the only solution.

Hypotrichosis associated with capillary malformation-arteriovenous malformation syndrome.

BACKGROUND: Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is associated with multifocal small CMs and a high risk for high-flow lesions. It is an autosomal dominant disorder, caused by RASA1 gene mutations. Recently, two novel clinical features have been identified: numerous small pale halos with central punctate red spots, and naevus anemicus. OBJECTIVES: To identify the prevalence of the new clinical manifestations in our patients with CM-AVM. The secondary objective was to investigate the presence of other skin lesions. METHODS: We retrospectively searched the picture database of our department for cases with a clinical diagnosis of CM-AVM, based on the identification of multiple cutaneous CMs and a negative history of epistaxis. We prospectively conducted a clinical and dermoscopic skin examination in all of these patients. RESULTS: Seven patients with multiple CMs were found, and only in one case was a cutaneous AVM present. Five patients had red punctate spots surrounded by pale halos on the upper limbs. Two adult patients also showed multiple telangiectasias on the neck and upper trunk. Naevus anemicus was not detected in any patient. A partial or total absence of vellous hair on the surface of CMs was observed in all patients. CONCLUSIONS: Red punctate spots with pale halos or small telangiectasias are frequent findings in CM-AVM syndrome. Hypotrichosis on the CMs suggests that RASA1 gene mutations could be involved in the hair follicle proliferation and cell cycle.

Phenotype and genotype in Nicolaides-Baraitser syndrome.

Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomalies syndrome caused by non-truncating mutations in the ATPase region of SMARCA2, which codes for one of the two alternative catalytic subunits of the BAF chromatin remodeling complex. We analyzed 61 molecularly confirmed cases, including all previously reported patients (n = 47) and 14 additional unpublished individuals. NCBRS is clinically and genetically homogeneous. The cardinal features (ID, short stature, microcephaly, typical face, sparse hair, brachydactyly, prominent interphalangeal joints, behavioral problems and seizures), are almost universally present. There is variability however, as ID can range from severe to mild, and sparse hair may be present only in certain age groups. There may be a correlation between the severity of the ID and presence of seizures, absent speech, short stature and microcephaly. SMARCA2 mutations causing NCBRS are likely to act through a dominant-negative effect. There may be some genotype-phenotype correlations (mutations at domain VI with severe ID and seizures; mutations affecting residues Pro883, Leu946, and Ala1201 with mild phenotypes) but numbers are still too small to draw definitive conclusions.

[History of the radiation damage in occupations].

In the year following Röntgen`s discovery of X-rays in 1895, approximately 60 cases of hand dermatitis and hair loss induced by radiation were reported. People using X-rays in their occupation, including X-ray tube manufacturers, physicians, and engineers, experienced chronic radiation dermatitis and were the first to be diagnosed with occupational radiation exposure. Reports of later appearing disorders, including skin cancer, suffered by doctors and engineers, were regarded as serious occupational diseases. In the 1910's, blood disorders, including leukemia, in people with occupational exposure to radiation came into focus. Dial painters applying radium to watches with a luminous dial clock face suffered osteomyelitis from about 1914. Other radiation damage reports include radiation death and carcinogenesis in the Chernobyl nuclear power plant accident in 1986, and radiation death in the Tokai-mura JCO accident in 1999. The details of radiation damage in the Fukushima Daiichi Nuclear Power Plant in 2011 have not yet been reported, but must be followed in the future.

Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene.

Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, diabetes mellitus, intellectual disability, sensorineural deafness, extrapyramidal signs, and low insulinlike growth factor 1 levels. Inter- and intrafamilial phenotypic variability have been reported. Mutations in the C2orf37 gene cause WSS. The present report describes the clinical signs and symptoms of three affected siblings from a consanguineous Bedouin family from Kuwait. Direct sequencing of the C2orf37 gene revealed that the c.436delC (p.Ala147Hisfs*9) mutation was present in a homozygous state in all affected siblings and in a heterozygous state in the parents and a healthy sister. Nine C2orf37 mutations causing WSS have been identified. This family shared the mutation reported earlier in Saudi families and families of Bedouin tribes from Qatar and Israel. No phenotypic or genotypic correlation has been observed. Despite the great phenotypic variability of WSS, hypotrichosis has been observed in all individuals with WSS reported. This condition has not been reported in the dermatologic literature. WSS should be included in the differential diagnosis of syndromic congenital hypotrichosis.

Metal sensitivity after TKA presenting with systemic dermatitis and hair loss.

Recent problems with metal-on-metal bearings in total hip arthroplasty have highlighted a connection between metal particles and allergic responses. Metal sensitivity associated with total knee arthroplasty (TKA) is less understood and poorly characterized. However, metal sensitivity can lead to TKA failure. Accurate and reliable testing for this phenomenon is elusive; therefore, the diagnosis of metal sensitivity remains one of exclusion. Only skin testing and lymphocyte transformation testing are commonly available to assess hypersensitivity, and neither test is reliable.This article describes a woman who presented with severe whole-body dermatitis and hair loss. After prolonged pain and progressive stiffness, including failed manipulation while under anesthesia and open synovectomy, the patient had a positive skin test, but the lymphocyte transformation test was negative. She was treated for metal sensitivity with TKA revision to nonallergenic components, and all symptoms resolved. One year after revision, she had good range of motion, complete dermatitis resolution, and hair loss restoration.To the authors' knowledge, this is the only report that describes hair loss as a symptom of metal sensitivity secondary to TKA and hair regrowth after revision. The authors now include metal sensitivity in a differential of causes of pain and other unusual symptoms after TKA that are otherwise unexplained.

Late diagnosis of ectodermal dysplasia syndrome.

This case study reports the clinical, skin biopsy and molecular findings in a 56-year-old Filipino man with the autosomal recessive ectodermal dysplasia disorder, Schöpf-Schulz-Passarge syndrome, the precise nature of which was established only after reading of a similar case in this journal. In addition to the late diagnosis, successful clinical management of his acral hyperkeratosis and ulceration has been difficult, with oral retinoids exacerbating the skin fragility.

Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood.

BACKGROUND: Mutations in LIPH are a cause of autosomal recessive woolly hair (ARWH). Homozygous c.736T>A (p.Cys246Ser), and compound heterozygous c.736T>A and c.742C>A (p.His248Asn) have been reported in 5 and 7 Japanese children with ARWH respectively. The severity of hypotrichosis is known to be able to change in the clinical course, and the mutation patterns of LIPH do not always correlate with the severity of hypotrichosis in ARWH caused by other mutation sites of LIPH. However, all 12 Japanese children previously reported to have ARWH have shown similar severity of hypotrichosis. OBJECTIVE: In this study, we investigated the clinical features and molecular basis of ARWH in patients including three adults (three adults and two children) from five non-related Japanese families. METHODS: Five families of Japanese origin that presented with woolly hair were studied. The phenotype was confirmed by clinical examination. Direct automated DNA sequencing of the LIPH gene was performed to identify the mutations in our probands. RESULTS: All patients had had woolly hair since birth. Homozygous c.736T>A mutations were found in four patients, including three adult cases, and compound heterozygous c.736T>A and c.742C>A mutations were found in one child patient. The two adults and two children had only sparse scalp hair, although one adult woman had mild hypotrichosis with long hairs. CONCLUSION: Some patients with homozygous c.736T>A can have a mild hypotrichosis phenotype with long hairs in adulthood.