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Chondrodysplasia Punctata
Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Erich Conradi (1882–1968), that share the features of stippled epiphyses and skeletal changes.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. .James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . Types * Rhizomelic chondrodysplasia punctata , , * X-linked recessive chondrodysplasia punctata *Conradi–Hünermann syndrome (chondrodysplasia punctata 2, x-linked dominant) * Autosomal dominant chondrodysplasia punctata See also * List of cutaneous conditions * List of radiographic findings associated with cutaneous conditions References External links Genodermatoses {{Genodermatoses-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Stippled Epiphyses
Stippled epiphyses is a pattern of focal bone calcification. The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. It is seen in chondrodysplasia punctata and in Keutel syndrome. It is also caused by use of warfarin, alcohol, and in hypothyroidism Hypothyroidism (also called ''underactive thyroid'', ''low thyroid'' or ''hypothyreosis'') is a disorder of the endocrine system in which the thyroid gland does not produce enough thyroid hormone. It can cause a number of symptoms, such as po .... References Skeletal disorders {{musculoskeletal-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rhizomelic Chondrodysplasia Punctata
Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections and congenital cataracts. The affected individuals have low levels of plasmalogens. Signs and symptoms Rhizomelic chondrodysplasia punctata has the following symptoms: * Bilateral shortening of the femur * Post-natal growth problems (deficiency) * Cataracts * Intellectual disability * Possible seizures * Possible infections of respiratory tract Genetics This condition is a consequence of mutations in the PEX7 gene, the GNPAT gene (which is located on chromosome 1) or the AGPS gene. The condition is acquired in an autosomal recessive manner. Pathophysiology The mechanism of rhizomelic chondrodysplasia punctata in the case of ''type 1'' of this condition one finds that peroxisome objective is PEX7, in peroxisome assembly. There are 3 pathways that ''count on'' PEX7 and are: :::: ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked Recessive Chondrodysplasia Punctata
X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts, and deafness.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . This condition is also known as arylsulfatase E deficiency, CDPX1, and X-linked recessive chondrodysplasia punctata 1. The syndrome rarely affects females, but they can be carriers of the recessive allele. Although the exact number of people diagnosed with CDPX1 is unknown, it was estimated that 1 in 500,000 have CDPX1 in varying severity. This condition is not linked to a specific ethnicity. The mutation that leads to a deficiency in arylsulfatase L (ARSL) occurs in the coding region of the gene. Absence of stippling, deposits of calcium, of bones and cartilage, shown on x-ray, does not rule out chondrodysplasia punctata or a normal chondrodysplasia punctata 1 (CDPX1) gene without mutation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Conradi–Hünermann Syndrome
Conradi–Hünermann syndrome is a rare type of chondrodysplasia punctata. It is associated with the EBP gene and affects between one in 100,000 and one in 200,000 babies. Signs and symptoms Possible signs and symptoms may include Genetics Conradi–Hünermann syndrome is a form of chondrodysplasia punctata, a group of rare genetic disorders of skeletal development involving abnormal accumulations of calcium salts within the growing ends of long bones. Conradi–Hünermann syndrome is commonly associated with mild to moderate growth deficiency, disproportionate shortening of long bones, particularly those of the upper arms and the thigh bones, short stature, and/or curvature of the spine. In rare cases, intellectual disability may also be present. While evidence suggests that Conradi–Hünermann syndrome predominantly occurs in females and is usually inherited as an X-linked dominant trait, rare cases in which males were affected have also been reported. The genetics of Conrad ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Cutaneous Conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. The skin weighs an average of four kilograms, covers an area of two square metres, and is made of three distinct layers: the epidermis, dermis, and subcutaneous tissue. 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.Burns, Tony; ''et al''. (2006) ''Rook's Textbook of Dermatology CD-ROM''. Wiley-Blackwell. . Within the latter type, the hairs occur in structures called pilosebaceous units, each with hair follicle, sebaceous gland, and associated arrector pili muscle. In the embryo, the epidermis, hair, and glands form from the ectoderm, which is chemically influenced by the underlying mesoderm th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Radiographic Findings Associated With Cutaneous Conditions
Many conditions of or affecting the human integumentary system have associated features that may be found by performing an x-ray or CT scan of the affected person. See also * List of cutaneous conditions * List of contact allergens * List of cutaneous conditions associated with internal malignancy * List of cutaneous conditions caused by mutations in keratins * List of cutaneous conditions caused by problems with junctional proteins * List of genes mutated in cutaneous conditions * List of histologic stains that aid in diagnosis of cutaneous conditions * List of immunofluorescence findings for autoimmune bullous conditions * List of inclusion bodies that aid in diagnosis of cutaneous conditions * List of keratins expressed in the human integumentary system * List of specialized glands within the human integumentary system * List of target antigens in pemphigoid * List of target antigens in pemphigus References * * {{DEFAULTSORT:Radiographic findings associated with cuta ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
