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Specialty. Medical genetics. Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18. [1] The deletion involves the distal section of 18q and typically extends to the tip of the long arm of chromosome 18. [2]
Individuals with ring 18 have one of their two copies of chromosome 18 that has formed the shape of a ring. The ring is formed when the caps on both the long arm (q) and the short arm (p) of one copy of chromosome 18 are lost and the new ends re-join to form the ring. Because the ring involves deletions of both the long arm (18q-) and the short ...
The following diseases are some of those related to genes on chromosome 18: Erythropoietic protoporphyria; Hereditary hemorrhagic telangiectasia; Niemann–Pick disease type C; Porphyria; Selective mutism; Edwards syndrome (trisomy 18) Tetrasomy 18p; Monosomy 18p; Pitt–Hopkins syndrome 18q21; Distal 18q-(distal deletion) [11] Proximal 18q ...
To try to treat melasma at home, Dr. Finney recommends products containing hydroquinone, kojic acid, phytic acid or tranexamic acid. Products containing niacinamide, vitamin B3, and vitamin C also ...
The two main types of human skin are: glabrous skin, the hairless skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin. [3] Within the latter type, the hairs occur in structures called pilosebaceous units , each with hair follicle , sebaceous gland , and associated arrector pili muscle. [ 4 ]
Incontinentia pigmenti. This condition is inherited in an X-linked dominant manner. Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disorder that affects the skin, hair, teeth, nails and central nervous system. It is named from its appearance under a microscope. [1]
Lichen planus. Trachyonychia is a condition characterized by rough accentuated linear ridges (longitudinal striations) on the nails of the fingers and toes. [3] When the condition occurs on all the twenty nails of the fingers and toes, it is known as twenty-nail dystrophy, most evident in childhood, [4] favoring males. [2][5] Trachyonychia ...
Specialty. Rheumatology, medical genetics, endocrinology. Pycnodysostosis (from Greek πυκνός (puknos) 'dense' dys- 'defective' and -ostosis 'condition of the bone' [1]) is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. [2] It is also known as PKND and PYCD. [3]