Porokeratosis: clinical manifestations and treatment options

Porokeratosis is a rare disease with an autosomal dominant type of inheritance. It is customary to distinguish classic Mibelli porokeratosis, as well as disseminated and localized variations of the course of dermatosis, which differ in genetic predisposition, trigger factors, and treatment approaches. The article describes the variants of the disease – eruptive itchy papular malformation that occurs on the extremities against the background of microcirculation disorders and giant, developed on the skin of the trunk. The main methods of treatment of porokeratosis are also described.

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Tuberous sclerosis syndrome: a typical case of a rare disease

Vestnik dermatologii i venerologii ◽

10.25208/0042-4609-2018-94-4-49-54 ◽

2018 ◽

Vol 94 (4) ◽

pp. 49-54

Author(s):

V. A. Okhlopkov ◽

E. A. Zykova ◽

O. V. Pravdina

Keyword(s):

Differential Diagnosis ◽

Rare Disease ◽

Tuberous Sclerosis ◽

Clinical Picture ◽

Clinical Case ◽

Autosomal Dominant ◽

Hereditary Disease ◽

Typical Case ◽

Dominant Type ◽

Autosomal Dominant Type

The article is devoted to a rare hereditary disease from the group of phak omatoses with an autosomal dominant type of inheritance — Pringle — Burnevill disease. The questions of the prevalence of the disease, the variability of the clinical picture, the timeliness of the clinical diagnosis are considered. Particular attention is paid to skin manifestations and their differential diagnosis. A clinical case of this disease is described.

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Modern methods of treating rosacea

Medical alphabet ◽

10.33667/2078-5631-2019-1-7(382)-65-71 ◽

2019 ◽

Vol 1 (7) ◽

pp. 65-71

Author(s):

O. A. Egorova ◽

K. A. Novikov

Keyword(s):

Clinical Manifestations ◽

Treatment Method ◽

Current Data ◽

Trigger Factors ◽

Laser Technology ◽

Individual Approach ◽

Modern Methods ◽

Methods Of Treatment ◽

Choice Of Therapy

Presented current data on the etiology of rosacea, the main aspects of pathogenesis, clinical forms of the disease. Reflects trigger factors leading to rosacea, as well as complicating its course. Modern methods of treatment are described, including the use of new safe preparations of ivermectin and brimonidine, providing a good, lasting effect of clinical manifestations of rosacea. The role of laser technology, actively occupying a leading place in the choice of physiotherapeutic treatment method, is noted. The need for an individual approach in the choice of therapy for each patient with rosacea is emphasized.

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Management of Plantar Keratodermas

Journal of the American Podiatric Medical Association ◽

10.7547/16-043 ◽

2017 ◽

Vol 107 (5) ◽

pp. 428-435 ◽

Cited By ~ 2

Author(s):

Rebecca M. Porter ◽

Albert A. Bravo ◽

Frances J.D. Smith

Keyword(s):

Gene Therapy ◽

Salicylic Acid ◽

Alternative Treatment ◽

Autosomal Dominant ◽

Treatment Options ◽

Clinical Manifestations ◽

Specific Treatment ◽

Inherited Mutations ◽

Pachyonychia Congenita

Plantar keratodermas can arise due to a variety of genetically inherited mutations. The need to distinguish between different plantar keratoderma disorders is becoming increasingly apparent because there is evidence that they do not respond identically to treatment. Diagnosis can be aided by observation of other clinical manifestations, such as palmar keratoderma, more widespread hyperkeratosis of the epidermis, hair and nail dystrophies, or erythroderma. However, there are frequent cases of plantar keratoderma that occur in isolation. This review focuses on the rare autosomal dominant keratin disorder pachyonychia congenita, which presents with particularly painful plantar keratoderma for which there is no specific treatment. Typically, patients regularly trim/pare/file/grind their calluses and file/grind/clip their nails. Topical agents, including keratolytics (eg, salicylic acid, urea) and moisturizers, can provide limited benefit by softening the skin. For some patients, retinoids help to thin calluses but may lead to increased pain. This finding has stimulated a drive for alternative treatment options, from gene therapy to alternative nongenetic methods that focus on novel findings regarding the pathogenesis of pachyonychia congenita and the function of the underlying genes.

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Polycystic Kidney Disease, Autosomal Dominant Type

Atlas of Genetic Diagnosis and Counseling ◽

10.1007/978-1-60327-161-5_150 ◽

2007 ◽

pp. 797-802

Keyword(s):

Kidney Disease ◽

Polycystic Kidney Disease ◽

Autosomal Dominant ◽

Polycystic Kidney ◽

Dominant Type ◽

Autosomal Dominant Type

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Limb Girdle Muscular Dystrophy, Autosomal Dominant Type 1C

Encyclopedia of Molecular Mechanisms of Disease ◽

10.1007/978-3-540-29676-8_1050 ◽

2009 ◽

pp. 1179-1180

Author(s):

Alexander K. C. Leung ◽

William Lane M. Robson ◽

Carsten Büning ◽

Johann Ockenga ◽

Janine Büttner ◽

...

Keyword(s):

Muscular Dystrophy ◽

Autosomal Dominant ◽

Limb Girdle Muscular Dystrophy ◽

Dominant Type ◽

Autosomal Dominant Type

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Punctate Calcification Group

Bone Dysplasias ◽

10.1093/med/9780190626655.003.0010 ◽

2018 ◽

pp. 351-378

Author(s):

Jürgen W. Spranger ◽

Paula W. Brill ◽

Christine Hall ◽

Gen Nishimura ◽

Andrea Superti-Furga ◽

...

Keyword(s):

Autosomal Dominant ◽

Clinical Findings ◽

Differential Diagnoses ◽

Chondrodysplasia Punctata ◽

Limb Defects ◽

Dominant Type ◽

Radiographic Features ◽

Keutel Syndrome ◽

Punctate Calcification ◽

Autosomal Dominant Type

This chapter discusses punctate calcification group and related disorders and includes discussion on Greenberg dysplasia, chondrodysplasia punctata Conradi-Hünermann type, CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome, chondrodysplasia punctata (rhizomelic type), chondrodysplasia punctata (brachytelephalangic type), chondrodysplasia punctata (autosomal dominant type), chondrodysplasia punctata (tibia-metacarpal type), and Keutel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

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