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Preauricular sinuses and preauricular cysts are two common congenital malformations. Each involves the external ear. The difference between them is that a cyst does not connect with the skin, but a sinus does. [3] Frequency of preauricular sinus differs depending the population: 0.1–0.9% in the US, 0.9% in the UK, and 4–10% in Asia and ...
Sjögren–Larsson syndrome is a rare autosomal recessive form of ichthyosis with neurological symptoms. [1] : 485 [2] : 564 [3] It can be identified by a triad of medical disorders. The first is ichthyosis, which is a buildup of skin to form a scale-like covering that causes dry skin and other problems. The second identifier is paraplegia ...
Examples of minor anomalies can include curvature of the fifth finger (clinodactyly), a third nipple, tiny indentations of the skin near the ears (preauricular pits), shortness of the fourth metacarpal or metatarsal bones, or dimples over the lower spine (sacral dimples). Some minor anomalies may be clues to more significant internal abnormalities.
Kindler syndrome is an autosomal recessive genodermatosis. The KIND1 gene mutated in Kindler syndrome codes for the protein kindlin-1, which is thought to be active in the interactions between actin and the extracellular matrix (focal adhesion plaques). [6] Kindler syndrome was first described in 1954 by Theresa Kindler.
Ichthyosis lamellaris. Ichthyosis lamellaris has an autosomal recessive pattern of inheritance. Specialty. Medical genetics. Usual onset. Present at birth. Causes. Genetics. Lamellar ichthyosis, also known as ichthyosis lamellaris and nonbullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in 600,000 people.
An intermediate power of a microscopic view of an accessory auricle. The lesions presents as a nodule or papule, either sessile or pedunculated. They may be soft or have a cartilaginous structure. By histologic examination, it is a recapitulation of normal external auricle. There will be skin, cartilaginous structures, and cartilage (although ...
Deletion in the POMP gene. Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome ( KLICK syndrome) is a rare cutaneous condition characterized by ichthyosis and keratoderma. [1] [2] It is an autosomal recessive disorder associated with a deletion in the transcription gene POMP, which codes proteasome maturation protein.
The ICD-10 Procedure Coding System (ICD-10-PCS) is a US system of medical classification used for procedural coding.The Centers for Medicare and Medicaid Services, the agency responsible for maintaining the inpatient procedure code set in the U.S., contracted with 3M Health Information Systems in 1995 to design and then develop a procedure classification system to replace Volume 3 of ICD-9-CM.
Naegeli–Franceschetti–Jadassohn syndrome ( NFJS ), also known as chromatophore nevus of Naegeli and Naegeli syndrome, [1] [2] is a rare autosomal dominant [3] form of ectodermal dysplasia, characterized by reticular skin pigmentation, diminished function of the sweat glands, the absence of teeth and hyperkeratosis of the palms and soles.
ICD-10 is the 10th revision of the International Statistical Classification of Diseases and Related Health Problems (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. [1]