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The predominant clinical symptoms of wrinkly skin syndrome are wrinkled and inelastic skin over the face, backs of hands/fingers, tops of feet, and abdomen; delayed closure of the fontanelle (baby's soft spot), and increased palmar and plantar creases in the hands and feet, respectively.
The diagnosis of harlequin-type ichthyosis relies on both physical examination and laboratory tests. Physical assessment at birth is vital for the initial diagnosis of harlequin ichthyosis. Physical examination reveals characteristic symptoms of the condition, especially the abnormalities in the skin surface of newborns.
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. [1] 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. [3]
Excess skin is an effect of surplus skin and fat after expansion during pregnancy or adipositas and following a massive and considerable weight loss. Further reasons can be aging effects, genetic disorders or an intentional expansion for skin reconstruction. Due to the elastic nature of the skin, there is generally some improvement over time.
Only 1 in 500,000 people in the world are born with the genetic condition called harlequin ichthyosis, and Mui Thomas is one of them. 26-year-old woman's skin sheds 10 times faster than average ...
Diagnosis is visual with measurement of spot size. The number of spots can have clinical significance for diagnosis of associated disorders such as neurofibromatosis type I. Six or more spots of at least 5 mm in diameter in pre-pubertal children and at least 15 mm in post-pubertal individuals is one of the major diagnostic criteria for NF1. [10]
Hirsutism is a clinical diagnosis of excessive androgenic, terminal hair growth. [25] A complete physical evaluation should be done prior to initiating more extensive studies, the examiner should differentiate between widespread body hair increase and male pattern virilization. [15]
Skin signs and symptoms in Noonan syndrome include lymphedema (lymph swelling of the extremities), keloid formation, excessive scar formation, hyperkeratosis (overdevelopment of outer skin layer), pigmented nevi (darkly pigmented skin spots), and connective tissue disease.