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Year : 2021  |  Volume : 5  |  Issue : 1  |  Page : 126-128

Congenital ichthyosiform erythroderma: A report in two siblings

Department of Dermatology and Venereology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India

Date of Submission22-Oct-2019
Date of Decision13-Jul-2020
Date of Acceptance18-Jul-2020
Date of Web Publication19-Feb-2021

Correspondence Address:
Sri Rupa
Room No. 58, Lady Doctor's Hostel, Banaras Hindu University Campus, Varanasi - 221 005, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/CDR.CDR_36_19

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How to cite this article:
Rai T, Subba N, Rupa S. Congenital ichthyosiform erythroderma: A report in two siblings. Clin Dermatol Rev 2021;5:126-8

How to cite this URL:
Rai T, Subba N, Rupa S. Congenital ichthyosiform erythroderma: A report in two siblings. Clin Dermatol Rev [serial online] 2021 [cited 2021 Jul 25];5:126-8. Available from: https://www.cdriadvlkn.org/text.asp?2021/5/1/126/309755


Congenital ichthyosiform erythroderma (CIE) is a rare form of congenital ichthyosis estimated to occur in about 1 in 200,000–300,000 births, inherited in an autosomal recessive manner.[1] It is synonymous to nonbullous CIE. This is a case report of two siblings with CIE.

Two siblings aged 9 and 7 years, both females, presented with their parents with complaints of generalized dryness and scaling of skin since birth. The parents did not give a history of collodion membrane at the time of birth, and there was no family history of consanguinity. History of the mother's pregnancy and delivery was uneventful. There was no history of atopy among family members and affected children. Both the siblings suffered from hypohidrosis and complained of heat intolerance.

On examination, fine superficial white scaling was present all over the body, relatively sparing the lower limbs [Figure 1],[Figure 2] and [Figure 4]. The scales were slightly darker and larger over the lower part of the lower limbs [Figure 3]. There was no thickening of palms and soles. There was no ectropion and eclabium. Examination of the hair, nail, and mucosa was done and found to be normal. Histopathological examination revealed sparse superficial perivascular lymphohistiocytic infiltrate with moderate papillomatosis. The epidermis showed irregular hyperplasia with confluence of rete ridges. The granular layer was thickened at places. Stratum corneum showed lamellated orthohyperkeratosis [Figure 5] and [Figure 6]. Genetic analysis was not done due to financial restraints of the patient and unavailability of facilities. On the basis of clinical features and histopathology, a diagnosis of CIE was made. The patient was started on oral isotretinoin 0.5 mg/kg. Topical emollients were also prescribed. The patient is on regular follow-up and has shown improvement.
Figure 1: Fine superficial white scaling present all over the body relatively sparing the lower limbs in one patient

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Figure 2: Fine scaling in the second sibling

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Figure 3: Slightly darker and larger scales over the lower limbs

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Figure 4: Fine scaling over the upper limbs with few areas of sparing

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Figure 5: Histopathology of congenital ichthyosiform erythroderma showing superficial perivascular lymphohistiocytic infiltrate, papillomatosis, granular layer thickened at places (H&ExScanner)

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Figure 6: Histopathology of congenital ichthyosiform erythroderma of higher magnification showing papillomatosis, irregular hyperplasia of epidermis with confluence of rete ridge. Stratum corneum shows lamellated orthohyperkeratosis (H&Ex10)

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Autosomal recessive congenital ichthyosis (ARCI) refers to a heterogeneous group of disorders that present at birth with generalized involvement of skin. Mutations in at least five genes have been shown to cause CIE: ALOXE3, ALOX12B, TGM1, NIPAL4, and ABCA12.[2] ABCA12 protein plays a major role in transporting fats (lipids) in cells that make up the outermost layer of the skin (the epidermis).[3] Just like other ARCI, CIE presents with a collodion membrane except when it is caused by a mutation in NIPAL4 gene.[2] The collodion membrane is later replaced by generalized erythroderma with fine white scales.[1],[4] It may be associated with ectropion, eclabium, scalp alopecia, hyperhidrosis with heat intolerance, and nail dystrophy.[5] However, majority of these patients have little to no ectropion, eclabium, or alopecia.

Nonsyndromic autosomal recessive ichthyosis is divided into two major clinical entities: (CIE) and lamellar ichthyosis (LI). The classification depends on the clinical features and is important for the management of the patients because they have quite different clinical features and prognosis. In CIE, the entire body is covered in erythroderma skin with fine white or light gray scales and feathery and in LI large, dark plate-like scales are seen. Ectropion and eclabium are less frequently seen, but not severe as LI. However, clinically, histopathologically, and genetically, there are no definitive diagnostic features specific to either CIE nor LI.[1] However, in LI, there is moderate-to-mild acanthosis, mild parakeratosis, and stratum corneum thickness at least twice than Non bullous congenital Ichthyosiform eyrthrodema. Management consists of hydrating and softening the skin and alleviating the associated scaling and pruritus. The mainstay of treatment includes emollients and topical keratolytics. Oral retinoids (isotretinoin and acitretin) have led to marked improvement in some patients, however it should be used with caution considering its side effects. Genetic counseling should be done. It is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions.[2]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that his name and initials will not be published, and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Akiyama M, Sawamura D, Shimizu H. The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. Clin Exp Dermatol 2003;28:235-40.  Back to cited text no. 1
Mehta TY, Bhuptani NV, Sheth PB. Disorders of keratinization. In: Sacchidanand S, editor. IADVL Textbook of Dermatology. 4th ed. Mumbai: Bhalani Publishing House; 2015. p. 345-432.  Back to cited text no. 2
Dean M, Hamon Y, Chimini G. The human ATP-binding cassette (ABC) transporter superfamily. J Lipid Res 2001;42:1007-17.  Back to cited text no. 3
Setyowatie L, Zulkarnain I. Non bullous congenital ichthyosiform erythroderma. Berkala Ilmu Kesehatan Kulit Dan Kelamin 2014;26:1-8.  Back to cited text no. 4
Natsuga K, Akiyama M, Kato N, Sakai K, Sugiyama-Nakagiri Y, Nishimura M, et al. Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. J Invest Dermatol 2007;127:2669-73.  Back to cited text no. 5


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]


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