Milia are frequently encountered as a primary or secondary patient concern in pediatric and adult clinics, and in general or surgical dermatology practice. Nevertheless, there are few studies on the origin of milia and, to our knowledge, there is no previous comprehensive review of the subject. We review the various forms of milia, highlighting rare variants including genodermatosis-associated milia, and present an updated classification.

http://web.as.uky.edu/Biology/faculty/cooper/BCTC/milia%20paper.pdf

Milia: a review and classification.

https://www.cidjournal.com/article/S0738-081X(14)00095-9/pdf

The immunocompromised district in dermatology: A unifying pathogenic view of the regional immune dysregulation.

Purpose
Patients with primary immunodeficiency diseases (PIDD) may present with recurrent infections affecting different organs, organ-specific inflammation/autoimmunity, and also increased cancer risk, particularly hematopoietic malignancies. The diversity of PIDD and the wide age range over which these clinical occurrences become apparent often make the identification of patients difficult for physicians other than immunologists. The aim of this report is to develop a tool for educative programs targeted to specialists and applied by clinical immunologists.

/pdf/attending-to-warning-signs-of-primary-immunodeficiency-4vsmkcezud.pdf

Attending to Warning Signs of Primary Immunodeficiency Diseases Across the Range of Clinical Practice

Olmsted syndrome (OS) is a rare genodermatosis classically characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma (PPK) and periorificial keratotic plaques, but which shows considerable clinical heterogeneity. The disease starts usually at birth or in early childhood. About 73 cases have been reported worldwide. OS is observed in both sexes, although male cases are more frequent. The most suggestive symptoms associate PPK with pseudoainhum and periorificial keratotic plaques. Frequently associated features include hair and nail abnormalities, leukokeratosis, corneal default and recurrent infections. Pain and itching are variable but can be severe. Most of reported OS cases are sporadic, although familial cases with different mode of inheritance were also described. Mutations in TRPV3 (Transient receptor potential vanilloid-3) gene have recently been identified as a cause of autosomal dominant (gain-of-function mutations) or recessive OS. Mutations in MBTPS2 (membrane-bound transcription factor protease, site 2) gene were identified in a recessive X-linked form. The diagnosis relies mainly on clinical features associating severe PPK and periorificial keratotic plaques, but can be challenging in patients with incomplete phenotype or atypical features. OS has to be differentiated from other severe forms of PPK including Vohwinkel, Clouston, Papillon-Lefevre or Haim-Munk syndromes, Mal de Meleda, pachyonychia congenita, Tyrosinemia type II and acrodermatitis enteropathica. When differential diagnoses are difficult to exclude, genetic studies are essential to search for a TRPV3 or MBTPS2 mutation. However, additional genes remain to be identified. No specific and satisfactory therapy is currently available for OS. Current treatments of hyperkeratosis (mainly emollients, keratolytics, retinoids or corticosteroids), either topical or systemic, are symptomatic and offer only temporary partial relief. Specific management of pain and itching is important to reduce the morbidity of the disease. The disease is debilitating and progressive keratoderma and auto-amputation of digits can prevent patients from grasping and walking, and confine them to a wheelchair. New therapeutic options are therefore crucial and are expected from a better understanding of the disease mechanisms. The use of TRPV3 antagonists would represent such a targeted and potentially powerful strategy.

/pdf/olmsted-syndrome-clinical-molecular-and-therapeutic-aspects-49yv1ye7bc.pdf

Olmsted syndrome: clinical, molecular and therapeutic aspects

https://www.cidjournal.com/article/S0738-081X(14)00094-7/pdf

Wolf’s post-herpetic isotopic response: Infections, tumors, and immune disorders arising on the site of healed herpetic infection

Subepidermal calcified nodule (SCN) is a form of calcinosis cutis that most commonly occurs in children The typical clinical presentation is of a solitary verrucous nodule on the face, but occasionally multiple lesions may be seen We describe SCN on the eyelids of two female patients; one of whom had four lesions The histopathology was typical of calcinosis cutis Both patients were in good health

Subepidermal calcified nodule: report of two cases and review of the literature.

http://www.scielo.br/pdf/clin/v61n4/30691.pdf

Polarized light microscopy of hair shafts aids in the differential diagnosis of Chédiak-Higashi and Griscelli-Prunieras syndromes

Osteoma cutis (OC) is a rare disorder characterized by compact bone formation in the dermis and subcutaneous tissue. It is classified in primary and secondary forms according to the presence or absence of previous cutaneous lesions. Miliary osteoma of the face (MOF) is a form of primary OC that generally occurs in middle-aged and older adult women. We report 3 cases of typical MOF and one additional case in a black patient, which to our knowledge has not been described previously.

Miliary osteoma of the face: a report of 4 cases and review of the literature.

FUNDAMENTOS: As ulceras venosas dos membros inferiores sao frequentes e tem grande impacto na qualidade de vida e produtividade do individuo, alem de alto custo para a saude publica. OBJETIVOS: Deteccao de alteracoes arteriais em pacientes de ulcera venosa cronica dos membros inferiores com emprego de metodo nao invasivo, de modo a discriminar aqueles em que estaria contra-indicado o tratamento compressivo. METODOS: Foram estudados 40 doentes portadores de ulcera venosa cronica, com o intuito de se avaliar a presenca de doenca arterial periferica pela medida do indice tornozelo/braco por doppler-ultra-som. RESULTADOS: O indice tornozelo/braco mostrou-se alterado (menor que 1) em 9/22 (40,9%) doentes com ulcera venosa cronica e hipertensao arterial concomitante, e apenas em 1/13 (7,7%) doentes de ulcera venosa cronica sem hipertensao arterial. CONCLUSOES: Doentes de ulcera venosa cronica e hipertensao arterial concomitantes devem ser submetidos rotineiramente a medida do indice tornozelo/braco para deteccao de possivel insuficiencia arterial periferica associada.

Avaliação da circulação arterial pela medida do índice tornozelo/braço em doentes de úlcera venosa crônica

Olmsted syndrome is a rare variety of transgredient palmoplantar keratoderma with an undefined inheritance pattern. It starts in the neonatal period or in childhood and has a progressive and extremely disabling course. We report two new, unrelated patients with Olmsted syndrome, one with the early signs and symptoms of the disorder, the other showing the full-blown spectrum of the syndrome during a 30-year follow-up period.

Fabiane Noronha Bergonse

Papers

Subepidermal calcified nodule: report of two cases and review of the literature.

Polarized light microscopy of hair shafts aids in the differential diagnosis of Chédiak-Higashi and Griscelli-Prunieras syndromes

Miliary osteoma of the face: a report of 4 cases and review of the literature.

Avaliação da circulação arterial pela medida do índice tornozelo/braço em doentes de úlcera venosa crônica

Olmsted syndrome: the clinical spectrum of mutilating palmoplantar keratoderma.