|
Palmoplantar Ectodermal Dysplasia
Palmoplantar ectodermal dysplasia is a cutaneous condition. Types include: * Palmoplantar ectodermal dysplasia type 1 or Pachyonychia congenita type I * Palmoplantar ectodermal dysplasia type 3 or Acrokeratoelastoidosis * Palmoplantar ectodermal dysplasia type 4 or Papillon–Lefèvre syndrome * Palmoplantar ectodermal dysplasia type 5 or Tyrosinemia type II * Palmoplantar ectodermal dysplasia type 6 or Olmsted syndrome * Palmoplantar ectodermal dysplasia type 8 or Meleda disease See also * Ectodermal dysplasia Ectodermal dysplasia (ED) is a group of genetic syndromes all deriving from abnormalities of the ectodermal structures.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Sau ... References Palmoplantar keratodermas {{dermatology-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pachyonychia Congenita Type I
Pachyonychia congenita (often abbreviated as "PC") is a rare group of autosomal dominant skin disorders that are caused by a mutation in one of five different keratin genes. Pachyonychia congenita is often associated with thickened toenails, plantar keratoderma, and plantar pain. Signs and symptoms Pachyonychia congenita is characterized by a clinical triad present in 97% of people with PC by the time they turn 10 years old: # Thickened toenails # Plantar keratoderma # Plantar pain that may require some patients to use wheelchairs, canes, crutches, and pain medications due to its severity Other signs and symptoms found in PC include: * Thickened fingernails * Palmar keratoderma * Oral leukokeratosis * Cysts, including steatocystoma multiplex * Follicular hyperkeratosis * Natal or prenatal teeth * Blisters * Excessive sweating of the palms and soles * Excess earwax production * Ear pain * Hoarseness * Angular chelitis * Fingernail and toenail infections Cause The conditi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Papillon–Lefèvre Syndrome
Papillon–Lefèvre syndrome (PLS), also known as palmoplantar keratoderma with periodontitis, is an autosomal recessive genetic disorder caused by a deficiency in cathepsin C. Presentation PLS is characterized by periodontitis and palmoplantar keratoderma. The severe destruction of periodontium results in loss of most primary teeth by the age of 4 and most permanent teeth by age 14. Hyperkeratosis of palms and soles of feet appear in first few years of life. Destructions of periodontium follows almost immediately after the eruption of last molar tooth. The teeth are involved in roughly the same order in which they erupt. Cause Mutations in the cathepsin C gene (CTSC), located at human chromosome 11q14.1-q14.3, are the cause of PLS. The disorder is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome (chromosome 11 is an autosome), and two copies of the defective gene (one inherited from each parent ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tyrosinemia Type II
Tyrosinemia type II is an autosomal recessive condition with onset between ages 2 and 4 years, when painful circumscribed calluses develop on the pressure points of the palm of the hand and sole of the foot. Pathophysiology Type II tyrosinemia is caused by a deficiency of the enzyme tyrosine aminotransferase (), encoded by the gene ''TAT''. Tyrosine aminotransferase is the first in a series of five enzymes that converts tyrosine to smaller molecules, which are excreted by the kidneys or used in reactions that produce energy. This form of the disorder can affect the eyes, skin, and mental development. Symptoms often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and redness, and painful skin lesions on the palms and soles. About half of individuals with type II tyrosinemia are also mentally disabled. Type II tyrosinemia occurs in fewer than 1 in 250,000 individuals. Diagnosis Diagnosis is made based on elevated plas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Olmsted Syndrome
Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the stratum corneum of the palms and soles. Autosomal recessive, dominant, X-linked, and acquired forms have all been described. 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 epidermolytic palmoplantar keratoderma", and "Vörn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Meleda Disease
Meleda disease (MDM) or "mal de Meleda", also called Mljet disease, keratosis palmoplantaris and transgradiens of Siemens, (also known as "acral keratoderma", "mutilating palmoplantar keratoderma of the Gamborg-Nielsen type", "palmoplantar ectodermal dysplasia type VIII",Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . and "palmoplantar keratoderma of the Norrbotten type") is an extremely rare autosomal recessive congenital skin disorder in which dry, thick patches of skin develop on the soles of the hands and feet, a condition known as palmoplantar hyperkeratosis.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . Meleda Disease is a skin condition which usually can be identified not long after birth. This is a Genetics, genetic condition but it is very rare. The hands and feet usually are the first to show signs of the disease but the disease ca ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ectodermal Dysplasia
Ectodermal dysplasia (ED) is a group of genetic syndromes all deriving from abnormalities of the ectodermal structures.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . More than 150 different syndromes have been identified. Despite some of the syndromes having different genetic causes, the symptoms are sometimes very similar. Diagnosis is usually by clinical observation, often with the assistance of family medical histories so that it can be determined whether transmission is autosomal dominant or recessive. Ectodermal dysplasias are described as "heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body." Presentation Hair Individuals affected by an ED syndrome frequently have abnormalities of the hair follicles. Scalp and body h ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
