Harlequin type ichthyosis

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Harlequin type ichthyosis
Classification and external resources
ICD-10	Q80.4
ICD-9	757.1
OMIM	242500
DiseasesDB	30052
eMedicine	derm/192
MeSH	D017490

Harlequin-type ichthyosis (also harlequin ichthyosis, ichthyosis congenita, Ichthyosis fetalis, keratosis diffusa fetalis, and Harlequin fetus^[1]:562), a skin disease, is the most severe form of congenital ichthyosis, characterized by a thickening of the keratin layer in fetal human skin. In sufferers of the disease, the skin contains massive, diamond-shaped scales, and tends to have a blue color. In addition, the eyes, ears, mouth, and other appendages may be abnormally contracted. The scaly keratin greatly limits the child's movement. Because the skin is cracked where normal skin would fold, it is easily pregnable by bacteria and other contaminants, resulting in serious risk of fatal infection.

Sufferers are known as harlequin fetuses, harlequin babies, or harlequins.

The harlequin-type designation comes from both the baby's apparent facial expression and the diamond-shape of the scales (resembling the costume of Arlecchino), which are caused by severe hyperkeratosis. The disease can be diagnosed in the uterus by way of fetal skin biopsy or by morphologic analysis of amniotic fluid cells obtained by amniocentesis. In addition, doctors can now usually recognize common features of the disease through ultrasound, and follow up with 3D ultrasound to diagnose the condition.

Contents 1 History 2 Features 3 Treatment and prognosis 4 Notable cases 4.1 United Kingdom 5 Notes 6 References 7 External links

[edit] History

The disease has been known since 1750, and was first described in the diary of a cleric from Charleston, South Carolina, the Rev. Oliver Hart:

"On Thursday, April 5, 1750, I went to see a most deplorable object of a child, born the night before of one Mary Evans in 'Chas'town. It was surprising to all who beheld it, and I scarcely know how to describe it. The skin was dry and hard and seemed to be cracked in many places, somewhat resembling the scales of a fish. The mouth was large and round and open. It had no external nose, but two holes where the nose should have been. The eyes appeared to be lumps of coagulated blood, turned out, about the bigness of a plum, ghastly to behold. It had no external ears, but holes where the ears should be. The hands and feet appeared to be swollen, were cramped up and felt quite hard. The back part of the head was much open. It made a strange kind of noise, very low, which I cannot describe. It lived about forty-eight hours and was alive when I saw it."

At least 100 cases have been reported worldwide in modern times. Neither gender nor ethnicity seem to affect the likelihood of a child having the disorder.

[edit] Features

The features of sufferers are deformed facially and cranially. The ears may be very poorly developed or absent entirely, as may the nose. The eyelids are severely everted (ectropion), which leaves the eyes and the area around them very susceptible to trauma. They often bleed upon birth. The lips, pulled by the dry skin, are fixed into a wide grimace (eclabium). Arms, feet, and fingers are almost always deformed in such a way that they cannot bend properly, and may be below the normal size. They present hypoplasia in the fingers; therefore, they cannot grab things properly, or they can barely touch them. Polydactyly, a condition in which one has more than the usual number of toes or fingers, has also been found in these infants.

They are extremely susceptible to changes in temperature due to their armor-like skin, which prevents normal heat loss. This can result in hyperthermia. Their respiration is also restricted by the skin, which impedes the chest wall from expanding and drawing in enough air. This can lead to hypoventilation and respiratory failure. Harlequins are often dehydrated, as their plated skin is not well suited to keeping water in.

[edit] Treatment and prognosis

In the past, the disorder was invariably fatal, whether due to dehydration, infection (sepsis), restricted breathing due to the plating, or other related causes. The most common cause of death was systemic infection and sufferers rarely survived for more than a few days. However, there have been improvements in care, most notably the drug Isotretinoin (Isotrex). Some patients have survived into adolescence and, in very rare cases, lived to adulthood.  

[edit] Notable cases

[edit] United Kingdom

Nusrit "Nelly" Shaheen (born 1984) is the oldest survivor with the condition in the UK. She is one of eight children, four of whom also suffered from the condition and died as young children. Nelly lives an active lifestyle and is studying sports coaching and leadership at Hereward College. She hopes to teach the course in the future.^[2][3]

[edit] Notes

[edit] References

• Akiyama M (1999). "The pathogenesis of severe congenital ichthyosis of the neonate". J Dermatol Sci. 21 (2): 96–104. doi:10.1016/S0923-1811(99)00024-9. PMID 10511478. 
• Moskowitz DG, Fowler AJ, Heyman MB, et al. (2004). "Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure". J Pediatr. 145 (1): 82–92. doi:10.1016/j.jpeds.2004.03.052. PMID 15238912. 

[edit] External links

The following links may contain graphic or disturbing depictions of the effects of Harlequin type ichthyosis on infants.

• A Case Of Harlequin Fetus With Psoriasis In His Family. Article from the Internet Journal of Pediatrics and Neonatology.
• Medical Article from FIRST Foundation
• Hospital photos and diagrams
• Information from the U.S. National Institutes of Health
• Genetic information

v • d • e Congenital malformations and deformations of integument (Q80-Q82, 757.0-757.3) Skin disease/ genodermatosis Congenital ichthyosis AD Ichthyosis vulgaris AR Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis · Ichthyosis lamellaris (Harlequin type ichthyosis) Netherton syndrome · Zunich-Kaye syndrome · Sjögren-Larsson syndrome XR X-linked ichthyosis Epidermolysis bullosa Epidermolysis bullosa simplex · Junctional epidermolysis bullosa · Epidermolysis bullosa dystrophica Pigmentation disorder Incontinentia pigmenti  · Urticaria pigmentosa · Lelis syndrome DNA repair-deficiency disorder Bloom syndrome · Rothmund-Thomson syndrome · Xeroderma pigmentosum Ectodermal dysplasia Naegeli syndrome/Dermatopathia pigmentosa reticularis · Hay-Wells syndrome · Hypohidrotic ectodermal dysplasia · Focal dermal hypoplasia · Ellis-van Creveld syndrome Hyperkeratosis/keratinopathy Meleda disease · Keratosis pilaris · Darier's disease · Dyskeratosis congenita · Lelis syndrome Other Familial cutaneous papillomatosis · Kindler syndrome · Port-wine stain (Nevus flammeus nuchae) · cadherin (EEM syndrome) · immune system (Hereditary lymphedema, Mastocytosis) · Hailey Hailey · Birthmark Elastic fiber/Connective tissue Cutis laxa (Gerodermia osteodysplastica) · Pseudoxanthoma elasticum see also non-congenital, neoplasia