The harlequin ichthyosis or Harlequin syndrome is a rare congenital disease that is manifested by scaly hyperkeratotic lesions on the skin. It is a relatively serious condition that causes alteration of the normal dermatological characteristics.
Both the deformity in the eyes and lips and the characteristic polygonal plates on the body of the newborn resemble a harlequin, hence the name it is given. The first mention of this rare disease was made by the Reverend Oliver Hart, in 1750. This religious made a precise description of the dermatological manifestations that a newborn had.
Ichthyosis encompasses a group of skin diseases whose origin is genetic. The term comes from the Greek word ichty -fish- due to the scaly lesions present. The most serious clinical form is precisely the harlequin syndrome.
Clinical manifestations include thick, scaly plaque hyperkeratosis with deep grooves in folds. What's more. Deformities are seen in the eyelids, lips, nose, and ears. The alteration of the skin is so severe that it affects the regulation of body heat, sweating and sensitivity.
The main cause of harlequin ichthyosis is a genetic defect related to the transporter protein ABCA12. Due to this defect, lipids are not adequately transported to the skin. It is an inherited autosomal recessive disease. It is common to find a consanguinity relationship between the parents of children with this syndrome.
The prevalence of this condition is very low. Although there is no cure, medications are available to improve or relieve symptoms..
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Dermatological manifestations are the most common finding in harlequin syndrome. Secondarily, other systems are affected by this disease.
The surface of the skin shows a generalized hyperkeratosis, dryness and thick scaling. Hyperkeratosis is due to excessive keratin production.
The typical lesion are elongated or polygonal hyperkeratotic plaques delimited by the formation of deep furrows in the folds. The grooves - or fissures - are usually reddened and moist
- Pronounced ectropion. Echtropion is the eversion of the external surface of the eyelid, preventing the opening and closing of them. As a consequence of this, the eye is exposed to dryness and infections..
- Eclabius. The edges of the lips are everted due to the traction of the facial skin, preventing their movement. Mouth remains open, limiting breastfeeding.
- Nasal hypotrophy, due to the little development of the nose due to the flattening of the septum and the deformity of the nasal fins. The nostrils may be absent or blocked.
- Atrial hypotrophy, which corresponds to the malformation of the ears. The ears appear flattened and ill-defined, and the ear canal absent or obstructed by the skin.
Normal body and limb movements are limited or absent. Hyperkeratosis decreases the elasticity and turgor of the skin, turning it into a thick shell.
- Absence of fingers.
- Supernumerary fingers (polydactyly).
- Hypotrophy of fingers and limbs.
- Spontaneous amputations.
The normal function of the sweat glands is compromised by the thickness of the skin and, in some cases, there is glandular atrophy. This makes the skin stay dry and there is no temperature control.
In contrast, fluid and electrolytes are lost through the fissures, which promotes hydro-electrolyte imbalances
The stiffness of the skin at the thoracic level causes restriction of respiratory movements. Varying degrees of respiratory distress occur, even up to respiratory failure.
- Dehydration and alteration of electrolytes, due to exudative losses from fissures.
- Hypoglycemia due to inadequate nutrition.
- Malnutrition.
- Increased susceptibility to infections due to loss of skin as a barrier.
- Altered state of consciousness resulting from lack of oxygen, glucose, or infection.
- Seizures caused by metabolic disturbances.
Harlequin ichthyosis has a high morbidity rate in the newborn. Currently, timely treatment allows the survival of at least 50% of those affected, reaching adulthood. With proper treatment and care, detachment of the collodion is observed within a few weeks.
Present symptoms, with due attention, can allow a relatively normal life to develop.
- Generalized erythroderma. The skin appears reddish, as if it were devoid of epidermis.
- Peeling. The abnormal balance of the skin is lost, for this reason a peeling that can be mild to severe persists.
- Keratoderma on palms and soles. Also dependent on skin alterations, thickening of the skin of the hands and feet, with fissures and peeling can be observed..
- Fissures in folds.
Ectropion persists in most cases, and therefore requires eye protection treatment..
The protective and thermoregulatory barrier properties of the skin are altered, presenting related symptoms..
- Predisposition to infections
- Altered sweating
- Loss of electrolytes.
- Alteration in the regulation of body temperature, in addition to loss of electrolytes, changes in sweating and
- Growth and development disorders, and for this reason short stature.
- Deformity in both ears and fingers.
- Impaired nail development.
- Lack of body hair and hair, or alopecia.
Harlequin syndrome is an autosomal recessive genetic disorder. Parents do not necessarily have the disease, but they carry altered genes that cause ichthyosis.
Harlequin ichthyosis has been suggested to be the result of a mutation of these genes. Additionally, consanguinity is observed in the parents of this and other types of ichthyosis..
The ABCA12 molecule is a protein linked to the ATP molecule that is responsible for the transport of lipids through the cell membrane. They are found in the cells that make up the skin, as well as cells in the lungs, testicles, and even fetal organs..
One of the main functions of ABCA12 is to transport lipids to the lamellar granules that provide ceramides -epidermosid- as a constituent of the epidermis.
The gene that codes for the transporter is altered and ABCA12 cannot fulfill its function correctly. The dysfunction, deformation or absence of lamellar granules is a consequence of this.
Lamellar granules have a primary function in the constitution of the skin. On the one hand, they transfer ceramides to the epidermis and on the other they facilitate normal desquamation. The alteration or lack of lamellar granules produces a deficiency of the desquamation and of the barrier that prevents the exit of liquids through the skin.
Finally, the ABCA12 mutation is expressed in the dermatological symptoms that characterize harlequin syndrome..
Its evolution and survival depend on the adequate and rapid treatment of the newborn with ichthyosis. A series of measures, between care and medications, are used to guarantee the survival of the newborn.
Infants and adults will receive treatments to keep the skin protected and clean, as a result of persistent erythroderma.
- Keep in a sterile environment.
- Endotracheal intubation.
- Apply wet saline dressings to the skin. In addition, the use of moisturizers and emollients is indicated..
- Infection prevention and therefore the use of antibiotics.
- Intravenous fluid and electrolyte replacement.
- Retinoids are a series of drugs related to vitamin A with specific action on the growth of dermal cells. Isotrethionine, in addition to etretinate and its derivative acitretin, are the most widely used retinoids.
- Prevention of keratitis due to ectropion requires ointments as well as ophthalmic moisturizers.
- Sunscreen or filter.
- Neutral soaps, however, sometimes require soap substitutes or syndet soaps..
- Moisturizing and emollient lotions. On the other hand, the use of topical keratolytics is indicated in case of desquamation or keratoderma.
- Depending on the degree of ectropion or risk of ocular keratitis, it requires the use of topical solutions or ointments. Both artificial tears and moisturizing ointments, in addition to antibiotics, are the most used.
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