Harlequin type ichthyosis (HTI) is a very rare, but most severe subtype of autosomal recessive congenital ichthyosis (ARCI). Profound thickening of the skin is often described as "armor-like", which significantly impacts respiratory function and promotes dehydration, temperature changes, malnutrition, seizures, and infections of the skin. Sepsis and severe fluid loss are some of the most common causes of death in this patient population, who infrequently survive past the neonatal period and infancy. The diagnosis is made through a detailed clinical assessment and genetic studies that confirm characteristic mutations.
The clinical presentation of harlequin type ichthyosis universally starts from birth and the majority of neonates suffering from this condition are born prematurely   . The most distinct sign of harlequin type ichthyosis is the appearance of the skin as "armor-like" plates that are separated by fissures, which impairs movement of the body and predisposes to numerous life-threatening events     . The skin markedly reduces the amplitude of chest expansion, leading to respiratory distress and hypoxia, whereas dehydration and electrolyte disbalance, poor feeding (resulting in malnutrition), temperature dysregulation (both hyperthermia and hypothermia may be encountered), and bacterial infections of the skin are all consequences of skin thickening seen in HTI    . Sepsis, respiratory failure, and seizures are the main contributors to mortality in the early neonatal period, but up to 56% of patients might survive through this period    . Shedding of the "armor-like" skin and subsequent development of generalized erythema and scaling turns harlequin type ichthyosis into a debilitating chronic skin disorder in young children   . Alopecia, palmoplantar keratoderma along with painful fissures, contractures of digits, and ectropion are the main symptoms   . Microcephaly, facial fractures, and growth delay are also constitutive findings  .
Entire Body System
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Also, acknowledge the contribution of sonologists, pathologist and medical genetics, obstetric and nursing teams. Written consent: A written informed consent was obtained from her for publication of this case report and its accompanying images. [ncbi.nlm.nih.gov]
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A case is made for the inclusion of dentists in the management of these cases once a diagnosis is made. [ncbi.nlm.nih.gov]
- Nail Abnormality
Additionally, patients can have heat and cold intolerance, pruritus, and hair and nail abnormalities. 15 Physical and occupational therapy is key to optimizing range of motion in infancy and childhood as the hyperkeratotic skin can lead to encasement [doi.org]
After obtaining a detailed patient history, but more importantly, after a proper physical examination, the diagnosis of harlequin type ichthyosis should be straightforward. The physician plays a crucial role in recognizing the main cutaneous manifestations of this disorder and early recognition can be life-saving. Because of the frequent fatalities that are seen from HTI, a prenatal diagnosis is of great benefit. Amniotic fluid cell examination combined with ultrasonography of the fetus to assess the shape of the fetal mouth at 17 weeks of pregnancy is considered to be an effective method, as is skin biopsy at 24 weeks of pregnancy  . The autosomal recessive pattern of inheritance necessitates a thorough family history when clinical suspicion exists toward this rare condition, both in the prenatal and postnatal setting. To make a definite diagnosis, however, genetic studies need to be employed. Skin biopsies should be obtained after birth and used as a sample to test for mutations in the ATP-binding cassette, subfamily A, member 12 (ABCA12) gene, which are present in all individuals who develop harlequin type ichthyosis    . Furthermore, preventive screening of individuals with a known family history for harlequin type ichthyosis through analysis of ABCA12 gene is advocated  .
There are no curative treatments for HI. Abca12-deficient mice were created as a model of HI. Treatment of the model mice with retinoid or steroid has not been successful. [ncbi.nlm.nih.gov]
There are no curative treatments for HI. Abca12‐deficient mice were created as a model of HI. Treatment of the model mice with retinoid or steroid has not been successful. Citing Literature Number of times cited according to CrossRef: 6 M. [doi.org]
What is the Treatment? The thick plate-like skin will gradually split and peel off. Antibiotic treatment may be necessary to prevent infection at this time. Administration of oral etretinate (1 mg. [firstskinfoundation.org]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
These mutations even affect the prognosis for survival. [campus.uni-muenster.de]
Her long term prognosis looks good: "I'm healthy an active and I take each day at a time, I want to show people that you can lead a full and happy life even with the condition." [web.archive.org]
Prognosis HI is associated with substantial ( The documents contained in this web site are presented for information purposes only. [orpha.net]
Complications Impaired vision Delayed developmental milestones Fulminant Sepsis Failure to thrive Respiratory failure Renal failure Prognosis The mortality rate for harlequin ichthyosis is high, close to 50%. [impocity.blogspot.com]
Prognosis - Harlequin ichthyosis Treatment - Harlequin ichthyosis Resources - Harlequin ichthyosis Not supplied. [checkorphan.org]
Etiology HI is due to recessive mutations in the ABCA12 gene encoding the ATP-binding cassette (ABC) transporter, involved in lipid transport from lamellar granules to the apical surface of granular layer keratinocytes. [orpha.net]
The couple underwent genetic counseling, where they were explained about the genetic etiology of the problem and the risk of recurrence in subsequent pregnancies. [ncbi.nlm.nih.gov]
In addition to the 3 cases reported herein, another patient with HI aged 6 years is described in the literature who developed rheumatoid factor–positive polyarthritis. 22 The coexistence of these 2 rare conditions suggests a common underlying etiology [doi.org]
Summary Epidemiology The prevalence is estimated to be less than 1/1,000,000. [orpha.net]
Michiko Kurosawa, Ritei Uehara, Atsushi Takagi, Yumi Aoyama, Keiji Iwatsuki, Masayuki Amagai, Masaki Nagai, Yosikazu Nakamura, Yutaka Inaba, Kazuhito Yokoyama and Shigaku Ikeda, Results of a nationwide epidemiologic survey of autosomal recessive congenital [doi.org]
Epidemiology The mortality rate of this disease is very high. More than 100 cases have been reported internationally. [skin-diseases-and-skin-care.imedpub.com]
EPIDEMIOLOGY Frequency International. More than 100 cases of harlequin ichthyosis have been reported. Mortality/Morbidity The mortality for harlequin ichthyosis rate is high. [flipper.diff.org]
The pathophysiology of the other abnormalities documented below has yet to be elucidated. [emedicine.medscape.com]
Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure. J Pediatr. 2004 Jul;145(1):82-92. [web.archive.org]
Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure. J Pediatr. 2004 Jul;145(1):82-92. Richard G. [ghr.nlm.nih.gov]
The novel intronic mutation found in the proband confirmed the clinical diagnosis as a severe type of HI and has helped the family in providing precise genetic counseling for further prevention of the disease and carrier screening of other family members [ncbi.nlm.nih.gov]
Eyes must be covered with special saline tissue or artificial tears to prevent from over drying. Skin as well, must be covered with saline dressings to prevent diamond shaped cracks from becoming deeper. [aclsstlouis.com]
Prevention As it is an autosomal recessive genetic disorder which is inherited from parents to new born babies due to the mutation ABCA12 gene there is only cure but no prevention to this disease. [skin-diseases-and-skin-care.imedpub.com]
Symptoms - Harlequin ichthyosis Causes - Harlequin ichthyosis Prevention - Harlequin ichthyosis Harlequin ichthyosis cannot be prevented. [checkorphan.org]
- Salehin S, Azizimoghadam A, Abdollahimohammad A, Babaeipour-Divshali M. Harlequin ichthyosis: Case report. J Res Med Sci. 2013;18(11):1004-1005.
- Richard G, Bale SJ. Autosomal Recessive Congenital Ichthyosis 2001 Jan 10 [Updated 2012 Sep 13] In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet] Seattle (WA): University of Washington, Seattle; 1993.
- Hazuku T, Yamada K, Imaizumi M, et al. Unusual protrusion of conjunctiva in two neonates with Harlequin Ichthyosis. Case Rep Ophthalmol. 2011;2:73–77.
- Hovnanian A. Harlequin ichthyosis unmasked: a defect of lipid transport. Journal of Clinical Investigation. 2005;115(7):1708-1710.
- Remaley AT, Rust S, Rosier M, et al. Human ATP-binding cassette transporter 1 (ABC1): Genomic organization and identification of the genetic defect in the original Tangier disease kindred. Proc Natl Acad Sci U S A. 1999;96(22):12685-12690.
- Rajpopat S, Moss C, Mellerio J, et al. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol. 2011;147:681–686.