|Other names||Acrodermatitis enteropathica, zinc deficiency type|
|Acrodermatitis enteropathica inheritance|
|Specialty|| Endocrinology |
|Symptoms||Dry skin, Emotional lability, Blistering of skin|
|Causes||Mutation of the SLC39A4 gene|
|Diagnostic method||Skin biopsy, Plasma zinc level|
|Treatment||Dietary zinc supplementation|
Acrodermatitis enteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc through the inner lining of the bowel, the mucous membrane. It is characterized by inflammation of the skin (dermatitis) around bodily openings (periorificial) and the tips of fingers and toes (acral), hair loss (alopecia), and diarrhea. It can also be related to deficiency of zinc due to other, i.e. congenital causes.
Other names for acrodermatitis enteropathica include Brandt syndrome and Danbolt–Cross syndrome.
Individuals with acrodermatitis enteropathica may present with the following:
Alopecia (loss of hair from the scalp, eyebrows, and eyelashes) may occur. Skin lesions may be secondarily infected by bacteria such as Staphylococcus aureus or fungi such as Candida albicans . These skin lesions are accompanied by diarrhea.
Acrodermatitis enteropathica, in terms of genetics, indicates that a mutation of the SLC39A4 gene on chromosome 8 q24.3 is responsible for the disorder. The SLC39A4 gene encodes a transmembrane protein that serves as a zinc uptake protein. The features of the disease usually start manifesting as an infant is weaned from breast milk. Zinc is very important as it is involved in the function of approximately 100 enzymes in the human body.
The diagnosis of an individual with acrodermatitis enteropathica includes each of the following:
Acrodermatitis enteropathica without treatment is fatal, and affected individuals may die within a few years. There is no cure for the condition. Treatment includes lifelong dietary zinc supplementation.
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males and in females who are homozygous for the gene mutation, see zygosity. Females with one copy of the mutated gene are carriers.
Hartnup disease is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids. Niacin is a precursor to nicotinamide, a necessary component of NAD+.
Angular cheilitis (AC) is inflammation of one or both corners of the mouth. Often the corners are red with skin breakdown and crusting. It can also be itchy or painful. The condition can last for days to years. Angular cheilitis is a type of cheilitis.
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.
Arterial tortuosity syndrome is a rare congenital connective tissue condition disorder characterized by elongation and generalized tortuosity of the major arteries including the aorta. It is associated with hyperextensible skin and hypermobility of joints, however symptoms vary depending on the person. Because ATS is so rare, not much is known about the disease.
SLC22A5 is a membrane transport protein associated with primary carnitine deficiency. This protein is involved in the active cellular uptake of carnitine. It acts a symporter, moving sodium ions and other organic cations across the membrane along with carnitine. Such polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for the elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. Mutations in the SLC22A5 gene cause systemic primary carnitine deficiency, which can lead to heart failure.
Uncombable hair syndrome is a rare structural anomaly of the hair with a variable degree of effect. It is characterized by silvery, dry, frizzy, wiry, and impossible to comb. It was first reported in the early 20th century. It typically becomes apparent between the ages of 3 months and 12 years. Uncombable Hair Syndrome has several names, including “pili trianguli et canaliculi,” “cheveux incoiffables,” and “spun-glass hair.” This disorder is believed to be autosomal recessive in most instances, but there are a few documented cases where multiple family members display the trait in an autosomal dominant fashion. Based on the current scientific studies related to the disorder, the three genes that have been causally linked to UHS are PADI3, TGM3, and TCHH. These genes encode proteins important for hair shaft formation. Clinical symptoms of the disorder arise between 3 months and 12 years of age. The quantity of hair on the head does not change, but hair starts to grow more slowly and becomes increasingly “uncombable.” To be clinically apparent, 50% of all scalp hair shafts must be affected by UHS. This syndrome only affects the hair shaft of the scalp and does not influence hair growth in terms of quantity, textural feel, or appearance on the rest of the body.
Zinc transporter ZIP4 is a transmembrane protein which in humans is encoded by the SLC39A4 gene. It is associated with acrodermatitis enteropathica.
Thiamine transporter 1, also known as thiamine carrier 1 (TC1) or solute carrier family 19 member 2 (SLC19A2) is a protein that in humans is encoded by the SLC19A2 gene. SLC19A2 is a thiamine transporter. Mutations in this gene cause thiamine-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness.
Zinc deficiency is defined either as insufficient zinc to meet the needs of the body, or as a serum zinc level below the normal range. However, since a decrease in the serum concentration is only detectable after long-term or severe depletion, serum zinc is not a reliable biomarker for zinc status. Common symptoms include increased rates of diarrhea. Zinc deficiency affects the skin and gastrointestinal tract; brain and central nervous system, immune, skeletal, and reproductive systems.
Zinc transporter 4 is a protein that in humans is encoded by the SLC30A4 gene.
Gianotti–Crosti syndrome, also known as infantile papular acrodermatitis, papular acrodermatitis of childhood, and papulovesicular acrolocated syndrome, is a reaction of the skin to a viral infection. Hepatitis B virus and Epstein–Barr virus are the most frequently reported pathogens. Other incriminated viruses are hepatitis A virus, hepatitis C virus, cytomegalovirus, coxsackievirus, adenovirus, enterovirus, rotavirus, rubella virus, HIV, and parainfluenza virus.
Madarosis is a condition that results in the loss of eyelashes, and sometimes eyebrows. The term "madarosis" is Greek for the word "madao" which means "to fall off." It originally was a disease of only losing eyelashes but it currently is the loss of both eyelashes and eyebrows. Eyebrows and eyelashes are both important in the prevention of bacteria and other foreign objects from entering the eye. A majority of patients with madarosis have leprosy, and it was reported that 76% of patients with varying types of leprosy had madarosis.
IFAP syndrome is an extremely rare genetic syndrome. It is also known as Ichthyosis follicularis, alopecia, and photophobia syndrome or simply ichthyosis follicularis. It is extremely rare: there were only 10 known cases in 1998.
Aplasia cutis congenita is a rare disorder characterized by congenital absence of skin. Frieden classified ACC in 1986 into 9 groups on the basis of location of the lesions and associated congenital anomalies. The scalp is the most commonly involved area with lesser involvement of trunk and extremities. Frieden classified ACC with fetus papyraceus as type 5. This type presents as truncal ACC with symmetrical absence of skin in stellate or butterfly pattern with or without involvement of proximal limbs. It is the most common congenital cicatricial alopecia, and is a congenital focal absence of epidermis with or without evidence of other layers of the skin.
Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment. The word breaks down into tricho – "hair", thio – "sulphur", and dystrophy – "wasting away" or literally "bad nourishment". TTD is associated with a range of symptoms connected with organs of the ectoderm and neuroectoderm. TTD may be subclassified into four syndromes: Approximately half of all patients with trichothiodystrophy have photosensitivity, which divides the classification into syndromes with or without photosensitivity; BIDS and PBIDS, and IBIDS and PIBIDS. Modern covering usage is TTD-P (photosensitive), and TTD.
Peeling skin syndrome is an autosomal recessive disorder characterized by lifelong peeling of the stratum corneum, and may be associated with pruritus, short stature, and easily removed anagen hair.
Junctional epidermolysis bullosa is a skin condition characterized by blister formation within the lamina lucida of the basement membrane zone.
Tricho–rhino–phalangeal syndrome type 2 is a genetic disorder consisting of fine and sparse scalp hair, thin nails, pear-shaped broad nose, and cone-shaped epiphyses of the middle phalanges of some fingers and toes.
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