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Clinically, mild glycogenic acanthosis is a normal finding, and does not progress to esophageal cancer or to stricture. [4] It is not related to leukoplakia, and is not dysplastic or premalignant. It was originally thought to be associated with gastroesophageal reflux disease (GERD), but the association is not entirely clear. [ 2 ]
Cowden syndrome (also known as Cowden's disease and multiple hamartoma syndrome) is an autosomal dominant inherited condition characterized by benign overgrowths called hamartomas as well as an increased lifetime risk of breast, thyroid, uterine, and other cancers. [1]
A skin abnormality known as acanthosis nigricans, which involves a discoloration (hyperpigmentation) and "velvety" thickening (hyperkeratosis) of the skin around skin fold regions of the neck, groin and under arms is also a common symptom. [1] Symptoms will negatively impact the daily life of the patient, and will persist until treated.
Acanthosis nigricans is a skin condition in which areas of the skin is of a dark and velvety discoloration, often seen in the body folds and creases such as the armpits, groin, and neck. [6] Within those affected by SADDAN, acanthosis nigricans develops early on, usually in infancy or early childhood. [4]
Malignant acanthosis nigricans may also become evident, many times with the sudden eruption of multiple seborrheic keratoses, known as the sign of Leser-Trélat. [ 9 ] [ 10 ] [ 11 ] Florid cutaneous papillomatosis mandates a search for an underlying malignancy, recognizing that it may be seen in patients with multiple visceral carcinomas.
Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans. [1] Some of the signs and symptoms of Crouzonodermoskeletal syndrome are similar to those seen with Crouzon syndrome.
Development/ prognosis Other symptoms GSD 0 (Lewis' disease) [5] Glycogen synthase (Muscle GYS1 / Liver GYS2) 1 in 20,000–25,000 [6] Liver 0a: Yes Muscle 0b: No No No (Muscle 0b) Glycogen deficiency in muscle fibres. Type I muscle fibre predominance. Exercise-induced, muscle fatigue, myalgia, fainting. [7] [8] Occasional muscle cramping ...
Also characteristic is moderate acanthosis a thickening of the stratum spinosum with elongation of rete ridges. [ citation needed ] - Characteristic histologic feature is regular alternation of slightly raised parakeratotic areas without a granular layer ( hypogranulosis ) and slightly depressed orthokeratotic areas with prominent granular ...