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Schöpf–Schulz–Passarge Syndrome
Schöpf–Schulz–Passarge syndrome is an autosomal recessive condition with punctate symmetric palmoplantar keratoderma, with the keratoderma and fragility of the nails beginning around age 12.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . In addition to palmoplantar keratoderma, other symptoms include hypodontia, hypotrichosis, nail dystrophies, and eyelid cysts ( apocrine hidrocystomas). Patients may also develop syringofibroadenoma and squamous cell carcinomas. It was characterized in 1971. It has been associated with WNT10A. See also * Palmoplantar keratoderma * List of cutaneous conditions * List of dental abnormalities associated with cutaneous conditions * List of cutaneous neoplasms associated with systemic syndromes Many cutaneous neoplasms occur in the setting of systemic syndromes. See also *List of cutaneous conditions *List of contact allergens *List of cutaneous conditions associated with increas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Palmoplantar Keratoderma
Palmoplantar keratodermas are a heterogeneous group of skin disorders characterized by abnormal thickening (scleroderma) of the stratum corneum of the palms and soles. Autosomal recessive, dominant, X-linked, and acquired forms have all been described in medical literature. Types Clinically, three distinct patterns of palmoplantar keratoderma may be identified: diffuse, focal, and punctate. Diffuse Diffuse palmoplantar keratoderma is a type of palmoplantar keratoderma that is characterized by an even, thick, symmetric hyperkeratosis over the whole of the palm and sole, usually evident at birth or in the first few months of life. Restated, diffuse palmoplantar keratoderma is an autosomal dominant disorder in which hyperkeratosis is confined to the palms and soles. The two major types can have a similar clinical appearance: * ''Diffuse epidermolytic palmoplantar keratoderma'' (also known as "Palmoplantar keratoderma cum degeneratione granulosa Vörner", "Vörner's epidermo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypodontia
Hypodontia is defined as the developmental absence of one or more teeth excluding the Wisdom tooth, third molars. It is one of the most common dental anomalies, and can have a negative impact on function, and also appearance. It rarely occurs in Deciduous teeth, primary teeth (also known as deciduous, milk, first and baby teeth) and the most commonly affected are the adult Premolar, second premolars and the upper Incisor, lateral incisors. It usually occurs as part of a syndrome that involves other abnormalities and requires multidisciplinary treatment. The phenomenon can be subdivided into the following according to the number of teeth concerned: #Hypodontia: one to six missing teeth excluding the third molars #Oligodontia: six or more missing permanent teeth excluding the third molars #Anodontia: complete absence of teeth Signs and symptoms Typically, all baby teeth will be present by the age of three. As for all adult teeth, they erupt between the ages 6 to 14, with the e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypotrichosis
Hair loss, also known as alopecia or baldness, refers to a loss of hair from part of the head or body. Typically at least the head is involved. The severity of hair loss can vary from a small area to the entire body. Inflammation or scarring is not usually present. Hair loss in some people causes psychological distress. Common types include male- or female-pattern hair loss, alopecia areata, and a thinning of hair known as telogen effluvium. The cause of male-pattern hair loss is a combination of genetics and male hormones; the cause of female pattern hair loss is unclear; the cause of alopecia areata is autoimmune; and the cause of telogen effluvium is typically a physically or psychologically stressful event. Telogen effluvium is very common following pregnancy. Less common causes of hair loss without inflammation or scarring include the pulling out of hair, certain medications including chemotherapy, HIV/AIDS, hypothyroidism, and malnutrition including iron deficiency ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Apocrine Hidrocystoma
Apocrine () is a term used to classify the mode of secretion of exocrine glands. In apocrine secretion, secretory cells accumulate material at their apical ends, often forming blebs or "snouts", and this material then buds off from the cells, forming extracellular vesicles. The secretory cells therefore lose part of their cytoplasm in the process of secretion. An example of true apocrine glands is the mammary glands, responsible for secreting breast milk. Apocrine glands are also found in the anogenital region and axillae. Apocrine secretion is less damaging to the gland than holocrine secretion (which destroys a cell) but more damaging than merocrine secretion (exocytosis). File:405 Modes of Secretion by Glands Apocrine.png, Apocrine secretion Image:Apocrine.jpg, Apocrine gland File:Histology of apocrine cells.png, Histology of apocrine cells, H&E stain. Apocrine metaplasia Apocrine metaplasia is a reversible transformation (metaplasia) of cells to an apocrine phenotype. I ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syringofibroadenoma
Syringofibroadenoma is a cutaneous condition characterized by a hyperkeratotic nodule or plaque involving the extremities. It is considered of eccrine origin. See also * Syringadenoma papilliferum * Skin lesion A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of this ... References External links Epidermal nevi, neoplasms, and cysts {{Epidermal-growth-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Squamous Cell Carcinoma
Squamous-cell carcinoma (SCC), also known as epidermoid carcinoma, comprises a number of different types of cancer that begin in squamous cells. These cells form on the surface of the skin, on the lining of hollow organs in the body, and on the lining of the respiratory and digestive tracts. The squamous-cell carcinomas of different body sites can show differences in their presented symptoms, natural history, prognosis, and response to treatment. By body location Human papillomavirus infection has been associated with SCCs of the oropharynx, lung, fingers, and anogenital region. Head and neck cancer About 90% of cases of head and neck cancer (cancer of the mouth, nasal cavity, nasopharynx, throat and associated structures) are due to SCC. Skin Cutaneous squamous-cell carcinoma is the second most common skin cancer, accounting for over 1 million cases in the United States each year. Thyroid Primary squamous-cell carcinoma of the thyroid shows an aggressive biologica ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
WNT10A
Wnt-10a is a protein that in humans is encoded by the ''WNT10A'' gene. Function The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. Clinical significance WNT10A is strongly expressed in the cell lines of promyelocytic leukemia and Burkitt's lymphoma. In addition, it and another family member, the WNT6 gene, are strongly coexpressed in colorectal cancer cell lines. The gene overexpression may play key roles in carcinogenesis through activation of the WNT-beta-catenin-TCF signaling pathway. This gene and the WNT6 gene are clustered in the chromosome 2q35 region. Mutations in the WNT10A gene are associated with Schöpf–Schulz–Passarge syndrome, hypodontia Hypodontia is defined as the developmental absence of one or ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Palmoplantar Keratoderma
Palmoplantar keratodermas are a heterogeneous group of skin disorders characterized by abnormal thickening (scleroderma) of the stratum corneum of the palms and soles. Autosomal recessive, dominant, X-linked, and acquired forms have all been described in medical literature. Types Clinically, three distinct patterns of palmoplantar keratoderma may be identified: diffuse, focal, and punctate. Diffuse Diffuse palmoplantar keratoderma is a type of palmoplantar keratoderma that is characterized by an even, thick, symmetric hyperkeratosis over the whole of the palm and sole, usually evident at birth or in the first few months of life. Restated, diffuse palmoplantar keratoderma is an autosomal dominant disorder in which hyperkeratosis is confined to the palms and soles. The two major types can have a similar clinical appearance: * ''Diffuse epidermolytic palmoplantar keratoderma'' (also known as "Palmoplantar keratoderma cum degeneratione granulosa Vörner", "Vörner's epidermo ... [...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 Human body, body and composed of Human skin, skin, hair, Nail (anatomy), 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 (skin), 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. Embryology, In the embryo, the epidermis, hair, and glands form from the ectod ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Dental Abnormalities Associated With Cutaneous Conditions
Many conditions of or affecting the human integumentary system have associated abnormalities of the teeth. 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 radiographic findings associated with cutaneous conditions * List of specialized glands within the human integumentary system * List of target antigens in pemphigoid * List of target antigens in pemphigus Circulating auto-antibodies in the human body can target norm ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Cutaneous Neoplasms Associated With Systemic Syndromes
Many cutaneous neoplasms occur in the setting of systemic syndromes. See also *List of cutaneous conditions *List of contact allergens *List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer *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 dental abnormalities associated with cutaneous conditions *List of genes mutated in cutaneous conditions *List of genes mutated in pigmented cutaneous lesions *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 radiographic findings associated with cutaneous conditions *List of specialized glands within the human integum ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
