Dermatology

Dermatology

Familial Mediterranean Fever

Are You Confident of the Diagnosis? What you should be alert for in the history Familial Mediterranean Fever (FMF) is a monogenetic autoinflammatory disease that is characterized by periodic fevers and multisystemic inflammation. The diagnosis is frequently made clinically in countries where the disease is relatively common, although additional genetic testing is useful for confirmation.…

Familial Dysautonomia (Riley-Day Syndrome)

Are You Confident of the Diagnosis? What you should be alert for in the history Familial dysautonomia (FD) is an autosomal recessive disorder characterized by autonomic and sensory dysfunction. It is classified as a hereditary sensory and autonomic neuropathy (HSAN type III), and is also known as Riley-Day syndrome, which was named for the two…

Familial Cutaneous Leiomyomatosis (FCL) (Hereditary Multiple Leiomyomas, Hereditary Leiomyomatosis and Renal Cell Cancer [HLRCC], Multiple Cutaneous and Uterine Leiomyomatosis, Reed Syndrome)

Are You Confident of the Diagnosis? Familial cutaneous leiomyomatosis (FCL) is an autosomal dominant genetic disease. It presents with cutaneous and uterine leiomyomas and is associated with the development of renal cancer. Characteristic findings on physical examination See the Leiomyoma chapter for a description of leiomyomas. Typically multiple pink-to-red dermal papules and nodules with minimal…

Fabry Disease (Anderson-Fabry Disease, Alpha-Galactosidase A Deficiency, Angiokeratoma Corporis Diffusum, Ceramide Trihexosidase Deficiency, Fabry's Disease, GLA Deficiency, Hereditary Dystopic Lipidosis)

Are You Confident of the Diagnosis? What you should be alert for in the history Fabry disease is an X-linked lysosomal storage disorder resulting from the deficient activity of the enzyme α-galactosidase A (α-Gal A) and the progressive accumulation of its primary glycolipid substrate, globotriaosylceramide (GL-3). Although GL-3 accumulates in most cell types to varying…

Eyelid Dermatitis (xeroderma of the eyelids, eczema of the eyelids, atopic dermatitis, allergic contact dermatitis, irritant contact dermatitis, seborrheic dermatitis of the eyelids)

Are You Confident of the Diagnosis? Eyelid dermatitis is an umbrella term describing a group of inflammatory skin disorders that localize to the eyelids and resemble eczema. There are many causes of eyelid dermatitis, hence it is a vexing problem for patients and can represent a diagnostic and therapeutic dilemma. Knowledge of the common causes…

Extramedullary Hematopoiesis

Are You Confident of the Diagnosis? What you should be alert for in the history Extramedullary hematopoiesis (EMH) normally develops during embryogenesis; however, when it occurs after birth EMH may be associated with other clinical scenarios that can be of concern. The liver and spleen are the most common organs for extramedullary hematopoiesis; however the…

Paget's Disease of the Breast and Extramammary Paget's Disease

Are You Confident of the Diagnosis? What you should be alert for in the history Mammary Paget’s disease (MPD) and extramammary Paget’s disease (EMPD) have insidious onsets and mimic numerous common inflammatory and infectious eruptions, such as eczema, psoriasis, intertrigo, and dermatophyte infection, among others. Patient history plays a valuable role in elucidating the diagnoses.…

Essential Fatty Acid Deficiency

Are You Confident of the Diagnosis? What you should be alert for in the history Essential fatty acid deficiency occurs in individuals receiving total parenteral nutrition (TPN) without lipid supplementation, in patients with a gastrointestinal disorders resulting in severe fat malabsorption such as cystic fibrosis and in systemic conditions, including acrodermatitis enteropathica, peripheral vascular disease,…

Erythromelalgia (Erythermalgia)

Are You Confident of the Diagnosis? Erythromelalgia was first described by Mitchell in 1878. In 1938, Smith and Allen first used the term “erythermalgia” to emphasize the increased skin temperature. The two terms are usually used as synonyms, although some authors prefer the latter, in particular for the primary form. Drenth and Michiels created the…

Erythrokeratodermia variabilis (erythrokeratodermia figurate Variabilis, erythrokeratoderma congenitals progressiva symmetrica, erythrokeratoderma progressive)

Are You Confident of the Diagnosis? Erythrokeratodermia variabilis (EKV) also called erthrokeratodermia figurate variabilis, erythrokeratoderma congenitals progressiva symmetrica, erythrokeratoderma progressive, is a rare genodermatosis characterized by variable migratory erythematous and relatively stable keratotic lesions. What you should be alert for in the history The patients initially present with lesions that are most prevalent during childhood…

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