Introduction: Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyosis. It is caused by mutations in the ABCA12 gene, leading to a major defect in epidermal lipid transport and a profound impairment of the skin barrier. The estimated incidence ranges from 1 in 300,000 to 1 in 1,000,000 live births. Clinically, affected neonates present at birth with thick hyperkeratotic plates separated by deep fissures, associated with bilateral ectropion, eclabium, and limb contractures. Despite advances in neonatal intensive care and the introduction of systemic retinoids, mortality remains high. We report here a case of harlequin ichthyosis observed in Madagascar. Case presentation: We report the case of a full-term newborn, the first child of a 15-year-old mother, delivered vaginally with a birth weight of 2540 g. A first-trimester prenatal ultrasound was reported as normal. No parental consanguinity was known. At day 0 of life, physical examination revealed massive generalized hyperkeratosis with large thick plates separated by deep erythematous fissures, giving the skin an “armor-like” appearance. Marked bilateral ectropion, eclabium, nasal flattening, dysmorphic auricles, and limb contractures were also observed. The newborn was admitted to the neonatal intensive care unit. Supportive care including topical emollients, correction of hydro-electrolytic disturbances, and infection prevention was initiated. Systemic retinoids could not be introduced. By day 4 of life, increased skin rigidity, widening of the fissures, and distal dark discoloration of the extremities suggestive of ischemic compromise were observed. The clinical course was marked by death at day 6 of life. Discussion: Harlequin ichthyosis results from impaired lipid transport caused by ABCA12 mutations, leading to severe disruption of the stratum corneum and skin barrier function. Prenatal diagnosis by ultrasound is possible but remains difficult and is often made late in pregnancy. The unfavorable outcome in our case highlights the challenges in managing this condition in resource-limited settings. Conclusion: Harlequin ichthyosis remains a severe neonatal emergency. Early recognition, prompt supportive care, and specialized multidisciplinary management are essential to improve prognosis.
| Published in | International Journal of Clinical Dermatology (Volume 9, Issue 1) |
| DOI | 10.11648/j.ijcd.20260901.19 |
| Page(s) | 72-75 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2026. Published by Science Publishing Group |
Harlequin Ichthyosis, Congenital Ichthyosis, ABCA12 Gene
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APA Style
Andriatahina, H. F. P., Jarison, L. V., Rakotonandrasana, F., Jaofeno, D. A., Ramarozatovo, L. S., et al. (2026). A Malagasy Case Report of Harlequin Ichthyosis. International Journal of Clinical Dermatology, 9(1), 72-75. https://doi.org/10.11648/j.ijcd.20260901.19
ACS Style
Andriatahina, H. F. P.; Jarison, L. V.; Rakotonandrasana, F.; Jaofeno, D. A.; Ramarozatovo, L. S., et al. A Malagasy Case Report of Harlequin Ichthyosis. Int. J. Clin. Dermatol. 2026, 9(1), 72-75. doi: 10.11648/j.ijcd.20260901.19
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Download@article{10.11648/j.ijcd.20260901.19,
author = {Herin’Ny Fitiavana Princia Andriatahina and Louisebine Volasoa Jarison and Fenohasina Rakotonandrasana and Diane Angela Jaofeno and Lala Soavina Ramarozatovo and Fahafahantsoa Rapelanoro Rabenja and Irina Mamisoa Ranaivo},
title = {A Malagasy Case Report of Harlequin Ichthyosis},
journal = {International Journal of Clinical Dermatology},
volume = {9},
number = {1},
pages = {72-75},
doi = {10.11648/j.ijcd.20260901.19},
url = {https://doi.org/10.11648/j.ijcd.20260901.19},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijcd.20260901.19},
abstract = {Introduction: Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyosis. It is caused by mutations in the ABCA12 gene, leading to a major defect in epidermal lipid transport and a profound impairment of the skin barrier. The estimated incidence ranges from 1 in 300,000 to 1 in 1,000,000 live births. Clinically, affected neonates present at birth with thick hyperkeratotic plates separated by deep fissures, associated with bilateral ectropion, eclabium, and limb contractures. Despite advances in neonatal intensive care and the introduction of systemic retinoids, mortality remains high. We report here a case of harlequin ichthyosis observed in Madagascar. Case presentation: We report the case of a full-term newborn, the first child of a 15-year-old mother, delivered vaginally with a birth weight of 2540 g. A first-trimester prenatal ultrasound was reported as normal. No parental consanguinity was known. At day 0 of life, physical examination revealed massive generalized hyperkeratosis with large thick plates separated by deep erythematous fissures, giving the skin an “armor-like” appearance. Marked bilateral ectropion, eclabium, nasal flattening, dysmorphic auricles, and limb contractures were also observed. The newborn was admitted to the neonatal intensive care unit. Supportive care including topical emollients, correction of hydro-electrolytic disturbances, and infection prevention was initiated. Systemic retinoids could not be introduced. By day 4 of life, increased skin rigidity, widening of the fissures, and distal dark discoloration of the extremities suggestive of ischemic compromise were observed. The clinical course was marked by death at day 6 of life. Discussion: Harlequin ichthyosis results from impaired lipid transport caused by ABCA12 mutations, leading to severe disruption of the stratum corneum and skin barrier function. Prenatal diagnosis by ultrasound is possible but remains difficult and is often made late in pregnancy. The unfavorable outcome in our case highlights the challenges in managing this condition in resource-limited settings. Conclusion: Harlequin ichthyosis remains a severe neonatal emergency. Early recognition, prompt supportive care, and specialized multidisciplinary management are essential to improve prognosis.},
year = {2026}
}
TY - JOUR T1 - A Malagasy Case Report of Harlequin Ichthyosis AU - Herin’Ny Fitiavana Princia Andriatahina AU - Louisebine Volasoa Jarison AU - Fenohasina Rakotonandrasana AU - Diane Angela Jaofeno AU - Lala Soavina Ramarozatovo AU - Fahafahantsoa Rapelanoro Rabenja AU - Irina Mamisoa Ranaivo Y1 - 2026/04/23 PY - 2026 N1 - https://doi.org/10.11648/j.ijcd.20260901.19 DO - 10.11648/j.ijcd.20260901.19 T2 - International Journal of Clinical Dermatology JF - International Journal of Clinical Dermatology JO - International Journal of Clinical Dermatology SP - 72 EP - 75 PB - Science Publishing Group SN - 2995-1305 UR - https://doi.org/10.11648/j.ijcd.20260901.19 AB - Introduction: Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyosis. It is caused by mutations in the ABCA12 gene, leading to a major defect in epidermal lipid transport and a profound impairment of the skin barrier. The estimated incidence ranges from 1 in 300,000 to 1 in 1,000,000 live births. Clinically, affected neonates present at birth with thick hyperkeratotic plates separated by deep fissures, associated with bilateral ectropion, eclabium, and limb contractures. Despite advances in neonatal intensive care and the introduction of systemic retinoids, mortality remains high. We report here a case of harlequin ichthyosis observed in Madagascar. Case presentation: We report the case of a full-term newborn, the first child of a 15-year-old mother, delivered vaginally with a birth weight of 2540 g. A first-trimester prenatal ultrasound was reported as normal. No parental consanguinity was known. At day 0 of life, physical examination revealed massive generalized hyperkeratosis with large thick plates separated by deep erythematous fissures, giving the skin an “armor-like” appearance. Marked bilateral ectropion, eclabium, nasal flattening, dysmorphic auricles, and limb contractures were also observed. The newborn was admitted to the neonatal intensive care unit. Supportive care including topical emollients, correction of hydro-electrolytic disturbances, and infection prevention was initiated. Systemic retinoids could not be introduced. By day 4 of life, increased skin rigidity, widening of the fissures, and distal dark discoloration of the extremities suggestive of ischemic compromise were observed. The clinical course was marked by death at day 6 of life. Discussion: Harlequin ichthyosis results from impaired lipid transport caused by ABCA12 mutations, leading to severe disruption of the stratum corneum and skin barrier function. Prenatal diagnosis by ultrasound is possible but remains difficult and is often made late in pregnancy. The unfavorable outcome in our case highlights the challenges in managing this condition in resource-limited settings. Conclusion: Harlequin ichthyosis remains a severe neonatal emergency. Early recognition, prompt supportive care, and specialized multidisciplinary management are essential to improve prognosis. VL - 9 IS - 1 ER -
Department of Dermatology, Place Kabary Hospital, Antsiranana, Madagascar
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