Management of harlequin ichthyosis in low-income countries

Rossi, Giacomo; Mesia, D

doi:10.1179/1465328111y.0000000020

Cited by 5 publications

(6 citation statements)

References 7 publications

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“…The management strategy focuses on providing protection to the skin barrier, control of infections, maintenance of fluid and electrolyte balance, and early initiation of retinoid therapy. 10 It requires the combined effort of a dermatologist, a neonatologist, and, in some cases, an ophthalmologist and an ENT specialist. The aim of treatment is to eliminate fish-like scales and reduce excessive irritation.…”

Section: Management and Treatmentmentioning

confidence: 99%

A rare association of collodion baby with hypothyroidism from tribal area of Jharkhand: a case report

Kumar¹,

Kumar²,

Kumar³

2023

Int J Contemp Pediatr

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Collodion baby is a rare congenital disorder that resembles the Harlequin foetus but is milder in severity. Although it has been reported that harlequin foetuses are associated with various abnormalities like kidney abnormalities, polydactyly, thymic atrophy, malignant keratoma, and thyroid aplasia, there are few reports of collodion babies associated with congenital abnormalities and/or disease in the literature. The case of a newborn infant admitted with skin shedding and diagnosed with collodion baby concomitant with congenital hypothyroidism is presented here. To the best of our knowledge, this is the first case report of a collodion baby with congenital hypothyroidism in the literature from the tribal region of Jharkhand.

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Section: Management and Treatmentmentioning

confidence: 99%

A rare association of collodion baby with hypothyroidism from tribal area of Jharkhand: a case report

Kumar¹,

Kumar²,

Kumar³

2023

Int J Contemp Pediatr

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“…2,3,5 Koreksi defisiensi ABCA12 secara in vitro menunjukkan normalisasi produksi dan distribusi seramid dan granula lamelar. 2 Pewarisan gen secara autosomal resesif didukung laporan kasus IH dengan riwayat pernikahan pertalian darah yang dilaporkan oleh Shruthi, et al, 7 Mithwani, et al, 8 Habib, et al, 9 Rossi et Mesia, 10 dan Wulandari, et al 11…”

Section: Pendahuluanunclassified

“…8 Rossi et Mesia juga melaporkan kasus bayi IH yang selamat tanpa perawatan di ruang intensif neonatus dan tidak mendapat terapi retinoid sistemik. 10 Di Indonesia, retinoid sistemik seperti asitretin jarang tersedia dan harganya relatif mahal. 11,18 Efektivitas retinoid sistemik dalam terapi IH sulit ditentukan karena prevalensi IH sangat rendah dan peranan perawatan intensif neonatus juga sangat krusial.…”

Section: Manifestasi Klinisunclassified

Iktiosis Harlequin: Tatalaksana dan Prognosis

Gunawan

Rakhmawati

2021

CDK

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Iktiosis Harlequin (IH) merupakan kelompok iktiosis kongenital autosomal resesif yang sangat jarang terjadi, dengan prevalensi 1 kasus setiap 300.000 orang. IH memiliki manifestasi klinis tipikal, dilahirkan dengan hiperkeratosis masif yang disebabkan pewarisan gen autosomal resesif mutasi gen adenosine triphosphate (ATP) - binding cassette sub-family A member 12 (ABCA12) yang terlibat dalam sekresi granula lamelar, serta transport seramid dan lipid epidermal. Kemungkinan hidup pasien IH meningkat seiring perbaikan fasilitas perawatan neonatus dan terapi retinoid. Prinsip utama perawatan pasien IH adalah mengupayakan deskuamasi, terapi suportif, dan penanganan kecacatan fisik yang mengancam vitalitas organ. Konseling genetik dan pemeriksaan diagnostik prenatal perlu untuk deteksi dini pada keluarga yang memiliki riwayat IH.Harlequin Ichthyosis (HI) is a rare autosomal recessive congenital ichthysosis that occurs in about 1 in 300.000 people. HI is characterized by typical skin manifestation with massive hyperkeratosis due to adenosine triphosphate (ATP) - binding cassette sub-family A member 12 (ABCA12) gene mutation inheritance. The ABCA12 gene is involved in lamellar granule secretion, ceramide, and epidermal lipid transport. Survival rate of HI patient increased along with improvement of neonatal care facilities and administration of systemic retinoid. The main principles of care are desquamation, supportive therapy, and treatment for physical disabilities which threatens organ vitality. Genetic counseling and prenatal diagnosis could benefit family with HI history.

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Section: Pendahuluanunclassified

Iktiosis Harlequin: Tatalaksana dan Prognosis

Gunawan

Rakhmawati²

2021

Cermin Dunia Kedokteran

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Iktiosis Harlequin (IH) merupakan kelompok iktiosis kongenital autosomal resesif yang sangat jarang terjadi, dengan prevalensi 1 kasus setiap 300.000 orang. IH memiliki manifestasi klinis tipikal, dilahirkan dengan hiperkeratosis masif yang disebabkan pewarisan gen autosomal resesif mutasi gen adenosine triphosphate (ATP) - binding cassette sub-family A member 12 (ABCA12) yang terlibat dalam sekresi granula lamelar, serta transport seramid dan lipid epidermal. Kemungkinan hidup pasien IH meningkat seiring perbaikan fasilitas perawatan neonatus dan terapi retinoid. Prinsip utama perawatan pasien IH adalah mengupayakan deskuamasi, terapi suportif, dan penanganan kecacatan fisik yang mengancam vitalitas organ. Konseling genetik dan pemeriksaan diagnostik prenatal perlu untuk deteksi dini pada keluarga yang memiliki riwayat IH. Harlequin Ichthyosis (HI) is a rare autosomal recessive congenital ichthysosis that occurs in about 1 in 300.000 people. HI is characterized by typical skin manifestation with massive hyperkeratosis due to adenosine triphosphate (ATP) - binding cassette sub-family A member 12 (ABCA12) gene mutation inheritance. The ABCA12 gene is involved in lamellar granule secretion, ceramide, and epidermal lipid transport. Survival rate of HI patient increased along with improvement of neonatal care facilities and administration of systemic retinoid. The main principles of care are desquamation, supportive therapy, and treatment for physical disabilities which threatens organ vitality. Genetic counseling and prenatal diagnosis could benefit family with HI history.

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Management of harlequin ichthyosis in low-income countries

Cited by 5 publications

References 7 publications

A rare association of collodion baby with hypothyroidism from tribal area of Jharkhand: a case report

A rare association of collodion baby with hypothyroidism from tribal area of Jharkhand: a case report

Iktiosis Harlequin: Tatalaksana dan Prognosis

Iktiosis Harlequin: Tatalaksana dan Prognosis

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