|Year : 2018 | Volume
| Issue : 4 | Page : 344-346
Bathing suit ichthyosis
Sahana M Srinivas1, Rachana Shekar2, Ravi Hiremagalore1
1 Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
2 Department of Dermatology, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India
|Date of Web Publication||28-Sep-2018|
Dr. Sahana M Srinivas
Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka
Source of Support: None, Conflict of Interest: None
Bathing suit ichthyosis (BSI) is a rare, autosomal recessive form of congenital ichthyosis. The phenotypic expression of this unique form of ichthyosis is limited to the involvement of bathing suit area owing to the temperature-sensitive mutation of transglutaminase 1 gene. Lack of Indian literature of this rare condition made us to report three cases of BSI in healthy female children who presented with ichthyotic scales on the trunk since birth with sparing of extremities.
Keywords: Autosomal recessive, bathing suit, ichthyosis, temperature sensitive
|How to cite this article:|
Srinivas SM, Shekar R, Hiremagalore R. Bathing suit ichthyosis. Indian J Paediatr Dermatol 2018;19:344-6
| Introduction|| |
Bathing suit ichthyosis (BSI) is an uncommon form of congenital ichthyosis. Recently, it is classified as one of the minor variants of autosomal recessive congenital ichthyosis (ARCI). Affected children present with collodion membrane at birth, which resolves in the first few weeks. The characteristic distribution of this rare ichthyotic disorder makes it unique among other ichthyosiform disorders. Initially described in South Africa, the condition affects individuals worldwide. Fewer than 45 cases have been reported in the English literature so far. Hereby, we describe three cases of this rare variant of ARCI.
| Case Reports|| |
A 13-year-old healthy girl presented with scaly skin lesions on the trunk and few areas on the extremities since birth. She was a third-born, term child of second-degree consanguineous marriage. Scaling sheds off every 3 days and recurs at the same site. There was a history of collodion membrane at birth, which resolved in 3 weeks, and later there was scaling only on the trunk. Natal and perinatal period was uneventful. Developmental milestones were normal. There was a history of diabetes and hypothyroidism in the child's father. Her two elder siblings were normal. The child was a known case of hypothyroidism on treatment. General physical examination showed short stature for her age (131.2 cm) which was below the 3rd percentile on the normal growth curve. Cutaneous examination revealed large, dark, ichthyotic scales distributed on the mid-trunk [Figure 1]a, [Figure 1]b and [Figure 2]. Similar large, dark scales were present on bilateral popliteal fossa and dorsa of the hands [Figure 3]. Face, scalp, and upper limbs were spared. Palms and soles showed hyperlinearity. Hair, teeth, and nail were normal. Mucosal examination was normal. Histological examination showed epidermis with thick, orthokeratosis with normal granular layer. Dermis showed mild-to-moderate perivascular lymphohistiocytic infiltrate. Systemic examination was normal. Routine laboratory investigations and biochemistry profile were normal.
|Figure 1: (a) Large, dark, adherent, ichthyotic scales distributed on the mid-trunk (b) on the right side of the trunk in Case 1|
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|Figure 2: Large, dark adherent ichthyotic scaling on the upper and mid-back in Case 1|
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Two healthy female siblings aged 12 years presented with scaly lesions on the face and trunk since birth. They were born at term of an uneventful pregnancy out of second-degree consanguineous marriage. A history of collodion membrane at birth was present which gradually resolved in 3 weeks. Developmental milestones and family history were normal. Children had no symptoms suggestive of systemic involvement. General physical examination was normal. Cutaneous examination showed thick, adherent, quadrangular type of lamellar scales typically involving the forehead, periocular region, and trunk with sparing of the extremities in both siblings [Figure 4]. Scalp showed mild scaling. Mucosa, nails, teeth, palms, and soles were normal. Skin biopsy was consistent with lamellar ichthyosis. Other laboratory investigations were normal.
|Figure 4: Lamellar scaling present on the forehead, periocular region, and bathing suit area in both siblings|
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Based on the history, clinical examination, and characteristic distribution of the scales in the above cases, diagnosis of BSI, a minor variant of ARCI, was established. Genetic analysis was not performed due to financial constraints. All the cases were managed with emollients and keratolytics. Acitretin was started for the second family but were lost to follow-up.
| Discussion|| |
Ichthyosis is a heterogeneous group of disorders characterized by widespread scaling. The most common phenotype is ichthyosis vulgaris followed by ARCI. ARCI comprises a wide range of ichthyotic phenotypes including Harlequin ichthyosis, lamellar ichthyosis, and nonbullous congenital ichthyosiform erythroderma. Self-healing collodion baby and BSI represent minor variants of ARCI. BSI is a rare congenital ichthyotic disorder first reported in 1970 by Scott. In BSI, there is a homozygous mutation in the exon 6 of transglutaminase 1 gene (TGM1). This mutation at nucleotide c. 944 converts arginine residue to leucine, designated as p.R315L., TGM1 has its role in cross-linking of precursor proteins such as loricrin and involucrin, necessary for the formation of cornified cell envelope. This explains the impaired epidermal differentiation and resultant hyperkeratosis common to other ichthyotic disorders.
Affected children are born with collodion membrane covering the whole body. Clear-cut bathing suit distribution of the large gray or brownish scales becomes evident few weeks later. It is distributed mainly on the warmer areas such as mid-trunk, axillary region, and scalp. In some patients, there might be an involvement of elbows and popliteal fossa. Typical sparing of central face, buttocks, limbs, and suprarenal lumbar area is seen., Striking distribution of BSI is explained by the role of temperature affecting the activity of mutated TGM1 enzyme, where the activity of TGM1 enzyme is lost at temperature >33°., Worsening of the skin lesions in summer is also explained similarly. In addition to the typical distribution, autosomal recessive inheritance and the absence of systemic abnormalities are the key features of this disorder. Histologically, BSI is characterized by orthohyperkeratosis and acanthosis. BSI has a good prognosis due to limited skin involvement with fewer complications. Hence, parents need to be counseled about the nature of the condition. Therapeutic options are topical formulations and systemic therapies. Topical measures include emollients, keratolytics, and topical retinoids, whereas severe cases require systemic retinoids.
To our knowledge, there are no cases reported from this part of the globe. In the above-described cases, all children were female and presented with characteristic phenotype of BSI. The first case had involvement of popliteal fossa in addition to bathing suit area. All the children had no systemic abnormalities except for hypothyroidism in the first child.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]