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Year : 2016  |  Volume : 17  |  Issue : 4  |  Page : 294-296

Comèl–Netherton's syndrome in siblings

Department of Paediatric Dermatology, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Date of Web Publication7-Oct-2016

Correspondence Address:
Priyadarshini Kharge
Department of Paediatric Dermatology, Bangalore Medical College and Research Institute, Bengaluru - 560 002, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.184332

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The syndrome is characterized by the association of two classical clinical presentations:“Trichorrhexis invaginata”, reported by Netherton and the“Ichthyosis linearis circumflexa”, described by Comel. Comèl - Netherton syndrome is an autosomal recessive disorder characterized by congenital ichthyosis linearis circumflexa, hair shaft defects, atopy, markedly elevated IgE levels and immune deficiency.1,2,3 It is caused by mutation in Spink5 gene that encodes for protein Latki, which inhibits the enzyme serine proteinase, deficiency of which leads to desquamation of horny layer.4,5 We hereby report this case in a pair of siblings who presented with Ichthyosis linearis circumflexa, trichorrhexis invaginata, pili torti and atopic features. Investigations of skin, hair and blood confirmed the clinical findings. The case is being reported for its rare and classical occurrence.

Keywords: Comèl–Netherton's, ichthyosis linearis circumflexa, pili torti, trichorrhexis invaginata

How to cite this article:
Shanmukhappa AG, Kharge P, Shivaram B, Budamakuntala L. Comèl–Netherton's syndrome in siblings. Indian J Paediatr Dermatol 2016;17:294-6

How to cite this URL:
Shanmukhappa AG, Kharge P, Shivaram B, Budamakuntala L. Comèl–Netherton's syndrome in siblings. Indian J Paediatr Dermatol [serial online] 2016 [cited 2021 Nov 28];17:294-6. Available from: https://www.ijpd.in/text.asp?2016/17/4/294/184332

  Introduction Top

Comèl–Netherton's syndrome (CNS) has myriad features such as congenital scaly erythroderma, ichthyosis linearis circumflexa, diagnostic hair-shaft defects, atopic diathesis, immune deficiency, and elevated immunoglobulin E (IgE) levels.[1],[2],[3] It presents at or soon after birth with erythroderma and fine scaling of the skin. In most, evolution is into polycyclic, scaly, erythematous plaques that are bordered by a double edged scale and coined by Comèl as ichthyosis linearis circumflexa.[1] The hallmark of Netherton's syndrome (NS) is trichorrhexis invaginata, described by Netherton,[1] with pili torti, trichorrhexis nodosa, and diffuse alopecia also being noted.[2] Only 10% of NS cases have affected siblings and consanguinity.[3]

  Case Report Top

Two siblings, a boy aged 7 and girl aged 4, born to third-degree consanguineous parents presented with complaints of progressively itchy lesions on skin and sparse hair growth on an itchy scalp. Since birth, they had progressively erythematous dry skin and scanty hair. The severity increased in rainy and cold weathers with remission during summer and on treatment. The erythema reduced significantly by the age of 3 years in both. The children [Figure 1] were short-statured and weighed less for an age-specific range, with no other significant milestone delays. On examination, the children had multiple varying islands of ichthyotic, hyperpigmented, and psoriasiform plaques on the body with sparing of palms and soles. A double-edged scaling was noted in a few areas [Figure 2]. Features of atopy [Figure 2] in both children included sparse growth of eyelashes and eyebrows, Dennie–Morgan folds, pityriasis alba, lichenified flexures, and shiny nails of fingers. Scalp examination showed few scales with sparse hair growth with the boy having more sparsity. Hair was not easily breakable and texture was unchanged. Teeth and nails were normal. The mental development of both was slightly lower and the children did not attend school due to unrelated reasons. No other systemic involvement was noted.
Figure 1: Double-edged scales with signs of lichenification in the creases

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Figure 2: Bamboo shoot hair/trichorrhexis invaginata

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Biopsies from scaly plaques in both patients revealed features of psoriasiform dermatitis. Hair examination revealed features of trichorrhexis invaginata from eyebrow hair [Figure 2] and pili torti [Figure 3] in scalp hair.
Figure 3: Pili torti

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Complete blood evaluation was normal. Rise in serum IgE levels of 1700 kU/l (boy) and 1965 kU/l (girl) was noted with other parameters being normal. The family could not afford a genetic analysis.

Based on the above features, we diagnosed them [Figure 4] as CNS.
Figure 4: Affected siblings

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Treatment included topical steroid (desonide 0.05% cream and lotion), tacrolimus 0.1% ointment, and oral antihistamines (hydroxyzine 25 mg), which were tapered and stopped. Emollients were advised on a long-time basis. Caregivers were advised on other measures such as avoiding multiple hot water washes, scrubs, harsh soaps, synthetic/woolen clothing, and to stay in an ambient temperature at all times. The children and their parents were counseled about the hair growth.

  Discussion Top

CNS is a rare autosomal recessive disorder.[1],[2] It is characterized by congenital erythroderma progressing into ichthyosis linearis circumflexa, itchy skin, specific hair-shaft defects, immune deficiency, hypereosinophilia, and highly elevated IgE levels.[2],[3],[4]

CNS presents at or soon after birth with generalized erythroderma and fine scaling. Progression is delayed if affection is severe.[3],[4]

Examination of eyebrow and scalp hair is especially beneficial for patients first seen in late childhood.[2] A diagnostic feature is trichorrhexis invaginata, although pili torti, trichorrhexis nodosa, and diffuse alopecia may be seen.[3]

IgE levels are highly elevated causing multiple allergies. This pathogenesis is of interest due to the complementing of skin, hair, and immunologic abnormalities in a monogenic disorder.[2],[3]

In about 20% of the cases, the neonate may have failure to thrive, recurrent infections, enteropathy with hypernatremic dehydration, and electrolyte imbalances. Typically, diagnosis is delayed and hence in them, hair examination plays a pivotal role. Complications may be fatal and thought to occur by altered permeability of the epidermal barrier due to premature secretion of lamellar body contents as seen in CNS.[3],[4],[5]

NS is caused by mutations in the serine protease inhibitor gene SPINK5, which encodes to LEKTI. This is the first serine protease inhibitor identified in such a multidomain disorder.[4],[5],[6] Conversion of lamellae into mature lamellar membrane was disturbed. These features may help in the early diagnosis of NS before the appearance of the hair-shaft defects.[7]

Pili torti is rarely reported in NS and its occurrence with bamboo hair in our patients was attributed to probable kazalk5 expression.[8] Furio et al.[9] showed the expression of human kazalk5/KLK5 to be overactive in the granular layer of the epidermis in transgenic mice models. Features of exfoliative erythroderma, growth delay, hair defects, impaired skin barrier, and desmosomal cleavage were seen. They also had cutaneous and systemic features of inflammation, allergy, and pruritus. It concluded that the model recapitulates the features of NS and proposed that KLK5 may be a promising treatment target.[10]

  Conclusion Top

This case is reported for its rarity and classic myriad features in siblings.

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.

  References Top

Bopp C, Da Graça Busto M. Netherton-Comel's syndrome. Med Cutan Ibero Lat Am 1978;6:45-59.  Back to cited text no. 1
Boussofara L, Ghannouchi N, Ghariani N, Denguezli M, Belajouza C, Nouira R. Netherton's syndrome: The importance of eyebrow hair. Dermatol Online J 2007;13:21.  Back to cited text no. 2
Grimbacher B, Belohradsky BH, Holland SM. Immunoglobulin E in primary immunodeficiency diseases. Allergy 2002;57:995-1007.  Back to cited text no. 3
Chavanas S, Garner C, Bodemer C, Ali M, Teillac DH, Wilkinson J, et al. Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping. Am J Hum Genet 2000;66:914-21.  Back to cited text no. 4
Sprecher E, Chavanas S, DiGiovanna JJ, Amin S, Nielsen K, Prendiville JS, et al. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: Implications for mutation detection and first case of prenatal diagnosis. J Invest Dermatol 2001;117:179-87.  Back to cited text no. 5
Altman J, Stroud J. Netherton's syndrome and ichthyosis linearis circumflexa. Arch Dermatol 1969;100:550-8.  Back to cited text no. 6
Fartasch M, Williams ML, Elias PM. Altered lamellar body secretion and stratum corneum membrane structure in Netherton syndrome: Differentiation from other infantile erythrodermas and pathogenic implications. Arch Dermatol 1999;135:823-32.  Back to cited text no. 7
Srinivas SM, Hiremagalore R, Suryanarayan S, Budamakuntala L. Netherton syndrome with pili torti. Int J Trichology 2013;5:225-6.  Back to cited text no. 8
Furio L, de Veer S, Jaillet M, Briot A, Robin A, Deraison C, et al. Transgenic kallikrein 5 mice reproduce major cutaneous and systemic hallmarks of Netherton syndrome. The Journal of Experimental Medicine. 2014;211:499-513.  Back to cited text no. 9
Bitoun E, Chavanas S, Irvine AD, Lonie L, Bodemer C, Paradisi M, et al. Netherton syndrome: Disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol 2002;118:352-61.  Back to cited text no. 10


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

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