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Year : 2016  |  Volume : 17  |  Issue : 3  |  Page : 239-241

Ichthyosis hystrix: An unusual presentation

Departments of Dermatology and Venereology and Leprology, Pt. B.D. Sharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana, India

Date of Web Publication5-Jul-2016

Correspondence Address:
Parul Aggarwal
1775, Sector 10/A, Gurgaon - 122 001, Haryana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.179491

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Ichthyosis hystrix (IH) is a rare, genetically, and clinically heterogeneous group of ichthyosiform dermatoses characterized by spiny hyperkeratotic scales. It is inherited either as an autosomal dominant or a sporadic variety. The phenotypic expression varies from a severe generalized involvement to localized and nevoid forms. The incidence of this disorder has not been reported in the literature. We report a sporadic case of IH involving neck, trunk, and extremities with increased scaling over the flexural aspects which is a rare presentation of this rare disease.

Keywords: Curth-Macklin type, flexural accentuation of scales, ichthyosis hystrix, sporadic

How to cite this article:
Jairath V, Aggarwal P, Kaur S, Jindal N, Jain VK. Ichthyosis hystrix: An unusual presentation. Indian J Paediatr Dermatol 2016;17:239-41

How to cite this URL:
Jairath V, Aggarwal P, Kaur S, Jindal N, Jain VK. Ichthyosis hystrix: An unusual presentation. Indian J Paediatr Dermatol [serial online] 2016 [cited 2022 May 26];17:239-41. Available from: https://www.ijpd.in/text.asp?2016/17/3/239/179491

  Inroduction Top

Ichthyosis hystrix (IH) is a rare autosomal dominant disorder characterized by spiny hyperkeratotic scales that typically affect extensor aspects of limbs and truncal areas. However, the group encompasses a striking clinical heterogeneity, and five distinct clinical phenotypes have been described, namely Brocq, Rheydt, Bafverstedt, Lambert, and Curth-Macklin (CM) types.[1] We report a sporadic case of CM variant of IH, in view of the rarity of the condition. The case was atypical in the flexural accentuation of scales, thus adding information on the various patterns of its clinical presentation.

  Case Report Top

A 3-year-old male child, born of a full-term normal vaginal delivery, from a nonconsanguineous marriage, presented with a history of developing thick, persistent, warty scales over upper extremities since the 3rd day of birth, gradually involving other body parts. There was no history of collodion presentation, erythroderma, or blister formation. The patient had normal developmental milestones. There were no symptoms suggestive of any systemic involvement. None of the family members were affected.

The growth of child was normal in terms of height (94 cm) and weight-by-age (16 kg). On cutaneous examination, bilaterally symmetrical thick spiny, hyperkeratotic papules coalescing to form cobblestone-like scaly plaques were present over trunk, posterior aspect of neck, ears, genitalia, and limbs with accentuation of scaling over the flexural aspects [Figure 1]. Diffuse palmoplantar keratoderma was present, extending over the dorsal aspects and associated with nail dystrophy [Figure 2]. There was no eye, ENT, neurological, or skeletal abnormality. Routine laboratory investigations were within normal limits.
Figure 1: Hyperkeratotic papules coalescing to form plaques over trunk, flexural areas, posterior aspect of neck, ears, and genitalia

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Figure 2: Diffuse palmoplantar keratoderma and nail dystrophy

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Skin biopsy revealed massive hyperkeratosis, patchy parakeratosis, acanthosis, and papillomatosis of the epidermis. There were a few binucleate cells and many granular cells with characteristic perinuclear halo [Figure 3].
Figure 3: Massive hyperkeratosis, patchy parakeratosis, acanthosis, and papillomatosis of the epidermis with few binucleate cells and many granular cells with characteristic perinuclear halo (H and E, ×10)

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With this constellation of clinical and histological findings, diagnosis of IHCM was made. The patient was prescribed oral acitretin in a dose of 0.75 mg/kg/day and topical application of 10% urea cream.

  Discussion Top

Ichthyoses are a heterogeneous group of skin diseases characterized by generalized scaling and areas of thickened skin. They result from abnormal epidermal differentiation or metabolism.[2]

IH is derived from the Greek words ichthyos meaning fish and hystrix meaning porcupine.[2] It may present at birth or have a delayed onset in infancy or childhood.[1] It is characterized by verrucous or porcupine-like hyperkeratotic scales, most marked on extensor arms and legs.[2] Owing to considerable phenotypic heterogeneity, it is divided into five types on the basis of pattern of distribution: Brocq, Rheydt, Bafverstedt, Lambert, and CM types.[3] In Brocq type, erythroderma and blistering precede the development of hystrix scales. Rheydt type shows hyperkeratosis of the face and extremities along with hearing loss. Bafverstedt type was reported in a single case with follicular hyperkeratosis and mildly affected palms. Lambert type describes the first documented cases in 1730s, the affected members being called as “porcupine men.” It presents with generalized hystrix scaling but face, palm, and soles are unaffected (NPS). CM type is similar to Lambert type but with palm and soles affected (PS).[3]

The term IH has also been employed to describe systemized epidermal nevi characterized by hystrix scaling along Blaschko's lines. This may be associated with various cutaneous, ocular, neurological, skeletal, cardiovascular, or urogenital developmental abnormalities when it is referred to as epidermal nevus syndrome (ENS). In a study by Solomon and Esterly, IH was seen in 20% of patients with ENS.[4] This calls for careful evaluation of patients with IH giving particular attention to developmental history and physical examination and further investigations if found necessary.[4]

Clinical picture of IH is simulated by a bullous type of ichthyotic disorder; epidermolytic hyperkeratosis (EHK) which presents at birth with blistering and over time develops hystrix spines linearly arrayed in flexural creases. EHK has a distinctive histopathologic picture of vacuolar degeneration of the upper epidermis.[2] IH differs from EHK in that blistering does not occur (except in Brocq type), localized, or nevoid forms are more common and in the case of generalized involvement, flexures are involved to a lesser extent than in EHK.[1]

IH and EHK are keratinopathic ichthyoses caused by mutations of the keratin genes that lead to an impairment of the keratin intermediate filaments (KIFs) network assembly in the cytoplasm of keratinocytes.[5] The differentiating keratinocytes display ultrastructural anomalies like KIF aggregation into peripheral shells, perinuclear vacuolization, and binucleated cell formation, coinciding with the histopathological features.[5] They are inherited as autosomal dominant or sporadic variety.[1] The phenotypic variations arising from a mutation in a single gene are presumed to result either from the involvement of different parts and thus specific protein domains of the gene or due to a combination of unknown genetic modifying factors and environmental influences.[1] Keratin 1 (K1) and keratin 10 (K10) gene mutations in the critical position of the rod domain have been reported in EHK and IH Brocq type, with K1 mutations giving rise to PS phenotype and K10 mutations causing NPS phenotype. IH Rheydt type shows Connexin 26 mutation. IH Lambert type and IHCM type show mutations in the tail domain of K10 and K1, respectively.[3]

Our case represents the rare CM type of IH. Only two large families and a few sporadic cases of IHCM have been reported since its first description in 1954.[5],[6],[7] Our case showed no Blaschkoid pattern as was noted in earlier cases.[7],[8] Though previous case reports describe it as hyperkeratosis predominantly on the extensor aspects of limbs, our case was unique in severe flexural involvement that has been previously reported in only two other IH cases to the best of our knowledge.[9],[10] The flexural involvement is more typical of EHK, the closest differential of IH. EHK was ruled out on the basis no history of blistering and absence of epidermal vacuolar degeneration on skin biopsy. Despite severe cutaneous disfigurement, patient had normal growth and no systemic involvement.

Treatment available for IH is limited to topical and systemic retinoids alone or in combination with keratolytics with minimal and temporary improvement. Though the course of the disease is chronic and protracted, the scaling may stabilize or improve with age.[1]

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

Judge MR, McLean WH, Munro CS. Disorders of keratinization. In: Burns D, Breathnach S, Cox N, Griffiths C, editors. Rook's Textbook of Dermatology. 8th ed. UK: Wiley-Blackwell Publications; 2010. p. 19.35-19.37.  Back to cited text no. 1
Fleckman P, DiGiovanna JJ. The ichthyoses. In: Wolff K, Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, editors. Fitzpatrick's Dermatology in General Medicine. 8th ed. USA: McGraw-Hill Inc.; 2012. p. 507-38.  Back to cited text no. 2
Wang WH, Li LF, Zhang Q, Yang SM, Jiang W, Wang YY, et al. Ultrastructural features of ichthyosis hystrix strongly resembling Lambert type. Br J Dermatol 2007;156:1027-31.  Back to cited text no. 3
Solomon LM, Esterly NB. Epidermal and other congenital organoid nevi. Curr Probl Pediatr 1975;6:1.  Back to cited text no. 4
Fonseca DJ, Rojas RF, Vergara JI, Ríos X, Uribe C, Chávez L, et al. A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in the KRT1 gene. Br J Dermatol 2013;168:456-8.  Back to cited text no. 5
Richardson ES, Lee JB, Hyde PH, Richard G. A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type. J Invest Dermatol 2006;126:79-84.  Back to cited text no. 6
Yusuf SM, Mijinyawa MS, Maiyaki MB, Mohammed AZ. Ichthyosis hystrix Curth-Macklin type in an African girl. Int J Dermatol 2009;48:1343-5.  Back to cited text no. 7
Nayak S, Acharjya B, Mohanty P. Ichthyosis hystrix. Indian Dermatol Online J 2013;4:47-9.  Back to cited text no. 8
[PUBMED]  Medknow Journal  
Biswas P, De A, Sendur S, Nag F, Saha A, Chatterjee G. A case of ichthyosis hystrix: Unusual manifestation of this rare disease. Indian J Dermatol 2014;59:82-4.  Back to cited text no. 9
[PUBMED]  Medknow Journal  
Basler RS, Jacobs SI, Taylor WB. Ichthyosis hystrix. Arch Dermatol 1978;114:1059-60.  Back to cited text no. 10


  [Figure 1], [Figure 2], [Figure 3]


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