Acheiropodia (ACHP) is an autosomal-recessive disorder that results in hemimelia, a lack of formation of the distal extremities. This is a congenital defect that consists of bilateral amputations of the distal upper and lower extremities, as well as aplasia of the hands and feet. It was first discovered and is prevalent almost exclusively in Brazil. Genetics
ACHP has been associated with a mutation in the LMBR1 gene. The disorder is inherited in an autosomal-recessive manner. This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. Diagnosis
References
External links
Overview at Orphanet
PDF of Am. J. of Human Genetics article
Its symptoms include superficial peeling of small areas of the skin that involve the dorsal and palmar surfaces of the hands and feet, superficial scaling of forearms and legs, and acanthosis. Peeling skin syndrome 6
Peeling skin syndrome 6 is caused by a genetic defect in the filaggrin (filaggrin family member 2) gene. The function for this gene is vital for normal cellular-cell adhesion within the cornified cell layers. It is also critical for the integrity and mechanical strength of the stratum corneum of the epidermis. Its symptom include dryness of the skin, peeling of the skin. erythema at lesion sites, bullae, and hyper-pigmentation. Symptoms and signs
Abnormal blistering of the skin
Abnormality of hair texture
Dry skin
Aminoaciduria
Hyperhidrosis
Ichthyosis

Treatment
There is no remedy for peeling skin syndrome. Treatment focuses on avoiding skin damage and treating symptoms as they occur. Ointments are also used to minimize skin peeling and when the blister grows, sterile needles may be activated. The condition can be exacerbated by hot temperatures, humidity, and friction. Individuals should be informed to avoid exacerbating triggers such as trauma, humidity, heat, perspiration, and water. Frequency
Only several dozen cases have been reported in the literature, making it rare, but because its symptoms are mild and similar to other disorders it could very well be under-diagnosed. See also
Idiopathic calcified nodules of the scrotum
Keratolysis exfoliativa
List of cutaneous conditions
Corneodesmosin
TGM5
Carbohydrate sulfotransferase
Cystatin A
Serpin
Filaggrin

References


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