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Usually observed at birth or shortly thereafter in 94% of patients, in other reports, patients did not develop skin lesions until 3 months or even 2 years after birth. Females are typically affected more often than males (64%).
The prognosis is favorable in most patients with an isolated cutaneous abnormality. In the majority of cases, both the vivid red marking and the difference in circumference of the extremities regress spontaneously during the first year of life. It is theorized that this may be due to the normal maturation process, with thickening of the epidermis and dermis. Improvements for some patients can continue for up to 10 years, while in other cases, the marbled skin may persist for the patient's lifetime.
One study reported an improvement in lesions in 46% of patients within 3 years. If CMTC persists into adulthood, it can result in complaints due to paresthesia, increased sensitivity to cold and pain, and the formation of ulcers.
Few reports included long-term follow up of CMTC into adolescence and adulthood. While about 50% of patients seem to show definite improvement in the reticular vascular pattern, the exact incidence and cause of persistent cases are unknown.
"Junctional epidermolysis bullosa with pyloric atresia" is a rare autosomal recessive form of junctional epidermolysis bullosa that presents at birth with severe mucocutaneous fragility and gastric outlet obstruction. It can be associated with "ITGB4" or "ITGA6".
"Junctional epidermolysis bullosa gravis" (also known as "Herlitz disease," "Herlitz syndrome," and "Lethal junctional epidermolysis bullosa") is the most lethal type of epidermolysis bullosa, a skin condition in which most patients do not survive infancy, characterized by blistering at birth with severe and clinically distinctive perorificial granulation tissue.
JEB-H is generally caused by mutations in one of the three laminin-332 coding genes: LAMA3 (18q11.2), LAMB3 (1q32) and LAMC2 (1q25-q31).
This condition has been linked to mutations in the ribosomal GTPase BMS1 gene.
DPN is not a premalignant condition nor is it associated with any underlying systemic disease. DPN lesions show no tendency to regress spontaneously, and often increase in size and number as an individual ages.
Aplasia cutis congenita (ACC) 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.
The exact etiology of ACC is still unclear but intrauterine infection by varicella or herpes virus, drugs such as methimazole, misoprostol, valproate, cocaine, marijuana etc., fetus papyraceus, feto-fetal transfusion, vascular coagulation defects, amniotic membrane adherence, abnormal elastic fiber biomechanical forces and trauma are implicated. It can be associated with Johanson-Blizzard syndrome, Adams-Oliver syndrome, trisomy 13, and Wolf-Hirschhorn syndrome.
It can also seen with exposure to methimazole and carbimazole in utero. This dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19.
The mortality for toxic epidermal necrolysis is 25-30%. People with SJS or TEN caused by a medications have a better prognosis the earlier the causative medication is withdrawn. Loss of the skin leaves patients vulnerable to infections from fungi and bacteria, and can result in sepsis, the leading cause of death in the disease. Death is caused either by infection or by respiratory distress which is either due to pneumonia or damage to the linings of the airway. Microscopic analysis of tissue (especially the degree of dermal mononuclear inflammation and the degree of inflammation in general) can play a role in determining the prognosis of individual cases.
Granuloma faciale (GF) is an uncommon benign chronic skin disease of unknown origin characterized by single or multiple cutaneous nodules, usually occurring over the face. Occasionally, extrafacial involvement is noted, most often on sun-exposed areas.
The disease mimics many other dermatoses and can be confused with conditions, such as sarcoidosis, discoid lupus erythematosus, mycosis fungoides, and fixed drug eruption.
DPN affects up to 35% of the African American population in the USA Insufficient data is available on the international frequency of DPN.
Lesions generally emerge during puberty, increasing steadily in number and size as an individual ages.
Black people with a fair complexion have the lowest frequency of involvement. DPN also occurs among Asians, although the exact incidence is unknown. Females are affected more frequently than males. Dermatosis papulosa nigra generally emerges in adolescence and is rarely in persons younger than 7 years The incidence, size and number of lesions of DPN increases with age.
Nevus depigmentosus or nevus achromicus is a loss of pigment in the skin which can be easily differentiated from vitiligo. Although age factor has not much involvement in the nevus depigmentosus but in about 19% of the cases these are noted at birth. Their size may however grow in proportion to growth of the body. The distribution is also fairly stable and are nonprogressive hypopigmented patches. The exact cause of nevus depigmentosus is still not clearly understood. A sporadic defect in the embryonic development has been suggested to be a causative factor.
It has been described as "localised albinism", though this is incorrect. Those with nevus depigmentosus may be prone to sunburn due to the lack of pigment, and the patient should use good sun protection. Sunscreen should be applied to all exposed skin, since reduced tanning of normal skin will decrease the contrast with hypopigmented skin. Most patients with nevus depigmentosus do not pursue treatment for their lesion. There is no way to repigment the skin. If, however, the lesion is of cosmetic concern, camouflage makeup is effective. If the lesion is small one could also consider excision.
These are localized white spots on skin which may affect any area of the body, but these white spots are quite stable lesions. In the majority of patients, the lesions are not completely achromic, but are hypopigmented and resemble splashed paint. The individual lesions are permanent and there are no effective therapies for re-pigmenting this nevus. If there is hair in an affected area, it is usually colourless or white.
Pemphigus is endemic in the rural areas of Brazil, especially along inland riverbeds.
Morphea is a form of scleroderma that is more common in women than men, in a ratio 3:1. Morphea occurs in childhood as well as in adult life. Beth Ziebert is the most famous person with it.
Morphea is an uncommon condition that is thought to affect 2 to 4 in 100,000 people. Adequate studies on the incidence and prevalence have not been performed. Morphea also may be under-reported, as physicians may be unaware of this disorder, and smaller morphea plaques may be less often referred to a dermatologist or rheumatologist.
Physicians and scientists do not know what causes morphea. Case reports and observational studies suggest there is a higher frequency of family history of autoimmune diseases in patients with morphea. Tests for autoantibodies associated with morphea have shown results in higher frequencies of anti-histone and anti-topoisomerase IIa antibodies. Case reports of morphea co-existing with other systemic autoimmune diseases such as primary biliary cirrhosis, vitiligo, and systemic lupus erythematosus lend support to morphea as an autoimmune disease.
B burgdorferi infection may be relevant for the induction of a distinct autoimmune type of scleroderma; it may be called "Borrelia-associated early onset morphea" and is characterized by the combination of disease onset at younger age, infection with B burgdorferi, and evident autoimmune phenomena as reflected by high-titer antinuclear antibodies.
Paraneoplastic acrokeratosis, Bazex syndrome (also known as acrokeratosis paraneoplastica of Bazex and acrokeratosis neoplastica) is a cutaneous condition characterized by psoriasiform changes of hands, feet, ears, and nose, with involvement of the nails and periungual tissues being characteristic and indistinguishable from psoriatic nails. The condition is associated with carcinomas of the upper aerodigestive tract.
This condition should not be confused with the other unrelated disease called Bazex syndrome, otherwise referred to as Bazex-Dupre-Christol syndrome.
The National Institute of Arthritis and Musculoskeletal and Skin Diseases describes it like this:
"Normally, our immune system produces antibodies that attack viruses and harmful bacteria to keep us healthy. In people with pemphigus, however, the immune system mistakenly attacks the cells in the epidermis, or top layer of the skin, and the mucous membranes. The immune system produces antibodies against proteins in the skin known as desmogleins. These proteins form the glue that keeps skin cells attached and the skin intact. When desmogleins are attacked, skin cells separate from each other and fluid can collect between the layers of skin, forming blisters that do not heal. In some cases, these blisters can cover a large area of skin."
Pemphigoid is a group of rare autoimmune blistering skin diseases. As its name indicates, pemphigoid is similar in general appearance to pemphigus, but, unlike pemphigus, pemphigoid does not feature acantholysis, a loss of connections between skin cells.
Pemphigoid is more common than pemphigus, and is slightly more common in women than in men. It is also more common in people over 60 years of age than it is in younger people.
The forms of pemphigoid are considered to be connective tissue autoimmune skin diseases. There are several types:
- Gestational pemphigoid or Pemphigoid gestationis (PG) (formerly called Herpes gestationis)
- Bullous pemphigoid (BP) Rarely affect the mouth
- Mucous membrane pemphigoid, also known as Cicatricial pemphigoid (CP) (No skin involvement)
Bullous and Cicatricial pemphigoids usually affect persons who are over age 60. Gestational pemphigoid occurs during pregnancy, typically in the second or third trimester, and/or immediately following pregnancy.
CHILD syndrome is a rare disorder with only 60 recorded cases worldwide thus far in literature.
Infantile myofibromatosis (also known as "Congenital generalized fibromatosis," and "Congenital multicentric fibromatosis") is the most common fibrous tumor of infancy, in which eighty percent of patients have solitary lesions with half of these occurring on the head and neck, and 60% are present at or soon after birth. Less commonly, infantile myofibromatosis presents as multiple lesions of skin, muscle, and bone with about 1/3 of these cases also having lesions in their visceral organs. All of these cases have an excellent prognosis with their tumors sometimes regressing spontaneously except for those cases in which there is visceral involvement where the prognosis is poor. Infantile myofibromatosis and the classic form of mesoblastic nephroma have been suggested to be the same disease because of their very similar histology. However, studies on the distribution of cell-type markers (i.e. cyclin D1 and Beta-catenin) indicate that the two neoplasms likely have different cellular origins.
Infantile acropustulosis (also known as "Acropustulosis of infancy") is an intensely itchy vesicopustular eruption of the hands and feet.
Involvement of scabies has been suggested.
infantile acropustulosis is characterized by itchy papules and vesicles that are similar to those found in scabies "mosquito like bites" but there is absence of the typical burrowing with S like burrows on the skin and can occur in small babies as opposed to scabies mostly found on children and young adults.
CHILD syndrome is not fatal unless there are problems with the internal organs. The most common causes of early death in people with the syndrome are cardiovascular malformations. However, central nervous system, skeletal, kidney, lung, and other visceral defects also contribute significantly.
Erythrokeratodermia variabilis (also known as "erythrokeratodermia figurata variabilis", "keratosis extremitatum progrediens", "keratosis palmoplantaris transgrediens et progrediens", "Mendes da Costa syndrome", "Mendes da Costa type erythrokeratodermia", and "progressive symmetric erythrokeratoderma") is a rare autosomal dominant disorder that usually presents at birth or during the first year of life. To date, it is thought to be caused by mutations in genes encoding for connexin channels proteins in the epidermis, leading to the misregulation of homeostasis in keratinocytes.
One type is characterized by generalized, persistent, brown hyperkeratosis with accentuated skin markings, while a second type is localized, with involvement that is limited in extent and characterized by sharply demarcated, hyperkeratotic plaques.
It can be associated with GJB3 and GJB4.
It was characterized in 1925.