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A sporadic case of ichthyosis hystrix: A rare entity.

Byline: Meenakshi Garg, Masuma P Bhengra, Pawan Gupta and Shyam Sundar Chaudhary

Abstract

The term ichthyosis hystrix encompasses several rare ichthyosiform disorders characterized by massive hyperkeratosis with an appearance like spiny scales. This is a rare form of ichthyosis with autosomal dominant inheritance and a very few cases have been reported. We report a case of ichthyosis hystrix in a 22-year-old male patient with hyperkeratotic, dry, warty, scaly excrescences on most of the body surface in a linear pattern. Palms, soles and nails were spared and family history was negative. The case is being reported in view of the rarity of disease and its sporadic occurrence.

Key words: Ichthyosis hystrix, hyperkeratosis, sporadic

Introduction

Ichthyosis hystrix is a group of rare conditions, characterized by spiny, hyperkeratotic scales in which blistering does not occur, erythroderma is mild or absent and localized and nevoid forms are more common.1The term is derived from the Greek roots for fish (ichthys) and porcupine (hustriks). It is inherited either as autosomal dominant or as sporadic variety.2

The lesions mostly occur on the extensor aspects of arms and legs. Patients with extensive involvement resemble those with epidermolytic hyperkeratosis with or without palmar/ plantar involvement, with verrucous or porcupine-like hyperkeratosis.3

The term has also been employed to describe localized and linear, warty epidermal nevi sometimes associated with mental retardation, seizures or skeletal anomalies. Alopecia and hair and nail abnormalities, as well as, inner ear deafness are also seen in these patients.

Case Report

A 22-year old male patient presented in our outpatient department with multiple, nonpruritic, warty lesions on most of the body surface for 20 years. The father reported that the patient was born out of non-consanguineous marriage, full term by a normal vaginal delivery. The lesionswere first noted at birth as a hyperpigmented, papular lesions on the medial aspect of right thigh, they gradually spread to the whole body and became warty and scaly. There was no history of blistering. The patient had no history of seizures, mental retardation, hearing or visual abnormalities. All developmental milestones were normal. None of the family members had any similar complaints.

General physical and systemic examination was normal.

On cutaneous examination, multiple, linear, hyperkeratotic, verrucous, dry, hyperpigmented papules and plaques were seen over the angle of mandible, ears, neck, anterior and posterior trunk and all extremities including the dorsal surfacesalong the lines of Blaschko (Figure 1 and 2). There were a few areas of normal skin noted on the right side of the trunk and extensor aspect of lower limbs (Figure 3). Scalp, palms and soles were spared, so was most part of the face. Nails were normal. No dental abnormalities were seen. Mucosal surfaces showed no abnormality.

Routine laboratory examination including complete blood count, urinalysis, liver function tests, renal function tests and chest X-ray showed no abnormal findings.

Histopathological examination of the skin lesion showed a focus of epidermal hyperplasia with papillomatosis and epidermal digitations. The granular layer was thickened and showed coarse keratohyalin granules with marked vacuolization of the granular and upper spinous layers. The stratum corneum was markedly thickened and lamellated. These findings were consistent with ichthyosis hystrix(Figure 4).

On the basis of the above constellation of symptoms (history, morphology of lesions, histopathological findings), a diagnosis of ichthyosis hystrix was made. The patient was managed with oral isotretinoin, topical keratolytics(urea and lactic acid) and emollients.

Discussion

Ichthyosis hystrix is a descriptive name for a heterogeneous group of keratinization disorders sharing similar clinical features of massive, spiky or verrucous lesions clinically and epidermolytic hyperkeratosis histologically.4 It was first described between 1731-1851 in the Lambert family of Suffolk affecting 11 family members in four generations, the first one being Edward Lambert (along with his descendants,known as the porcupine men).

In 1902, Brocq5described ichthyosis hystrix as an atypical form of congenital bullous ichthyosiform erythroderma. It was later described by various names by other authors like nevus verrucous, systematized epidermal nevus and epidermolytic hyperkeratosis.Gianotti,6 in 1980, classified it as a localized form of congenital epidermolytic hyperkeratosis.

Table 1 Types of ichthyosis hystrix[7].

Type###Characteristic features

1.Curth and Macklin###Prominent extensor

###involvement, severe

###palmoplantar keratoderma,

2. Lambert###Childhood onset, palms and

###soles spared

3. Rheydt###Generalized warty

###hyperkeratosis with deafness

4. Bafverstedt###Striking scaling over face

Curth and Macklin described two teenage brothers with similar presentation of ichthyosis. Affected relatives spanning five generations had a variable phenotype and the condition was regarded as autosomal dominant.

The types of ichthyosis hystrix includeBrocq, Lambert, Curth-Macklin, Rheydt and Bafverstedt7(Table 1).A study shows mutation in variable tail (V2) domain of keratin 1.8We could not investigate for the same due to lack of this facility at our centre.

The Curth and Macklin (IHCM-Ichthyosis Hystrix of Curth and Macklin) subtype is characterized by severe palmoplantar keratoderma occurring in a striated or striped pattern. Spine-like, brown lesions are seen over the whole body, being more prominent on the extensors. Histologically, binucleate keratinocytes are seen. In our patient, the palms and soles were spared.

In Lambert type, onset is delayed till childhood. Phenotype and histology is similar to IHCM but palms and soles are spared.

In Rheydt type(also known as HID-hystrix like ichthyosis and deafness), generalized warty hyperkeratosis and deafness are seen. Connexin 26 mutation has been noted.9Our patient had no deafness.

In Bafverstedt, striking hystrix scaling of face is seen. Our patient had very few lesions on the facial skin.

Histopathological examination shows severe orthohyperkeratosis, patchy parakeratosis, acanthosis, and papillomatosis with scattered vacuolated and binucleate keratinocytes in the upper epidermis. In our patient, histopathology revealed hyperkeratosis, acanthosis, marked vacuolization of granular and upper spinous layers with coarse keratohyalin granules.

We prescribed our patient with topical keratolytics, emollients and systemic retinoids. The treatment showed some beneficial result.

We decided to report this case because of the rarity of disease, especially sporadic occurrence. Less than five cases have been reported from India. To the best of our knowledge, this is the first case of Ichthyosis hystrix being reported from Jharkhand, India.

Acknowledgement

We are grateful to Dr. Shahid Hussan, Assistant Professor, Katihar Medical College, Bihar for his intense support and guidance in preparing the article.

References

1. Judge MR, McLean WH, Munro CS. Disorders of keratinization. In: Burns T, Breathnach S, Cox N, Griffith C, editors. Rook's Textbook of Dermatology. 8 ed. Singapore: Wiley-Blackwell; 2010. p. 19.1-122.

2. Kubo Y, Urano Y, Matsuda R, Ishigami T, Murao K, Arase Set al. Ichthyosis hystrix, Curth-Macklin type: A new sporadic case with a novel mutation of keratin 1. Arch Dermatol. 2011;147:999-1001.

3. 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. 8 ed. New York: McGraw-Hill; 2012. p. 507-38.

4. Nayak S, Acharjya B, Mohanty P. Ichthyosis hystrix. Indian Dermatol Online J. 2013;4:47-9.

5. Brocq L. Erythrodermie congenitale ichthyosiforme avec hyperepidermotrophie. Ann Dermatol Syphiligr. 1902;4:1-31.

6. Gianotti F. Congenital ichthyosiform dermatoses in childhood. J Dermatol (Japan). 1980;7:1-9.

7. Wang WH, Li LF, Zhang Q, Yang SM, Jiang W, Wang YYet al. Ultrastructural features of ichthyosis hystrix strongly resembling Lambert type. Br J Dermatol. 2007;156:1027-31.

8. Ishida-Yamamoto A, Richard G, Takahashi H, Iizuka H.In vivostudies of mutant keratin 1 in ichthyosis hystrix Curth-Macklin. J Invest Dermatol. 2003;120:498-500.

9. Lee JR, White TW. Connexin-26 mutations in deafness and skin disease. Expert Rev Mol Med. 2009;11:e35.
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Publication:Journal of Pakistan Association of Dermatologists
Article Type:Case study
Geographic Code:9PAKI
Date:Mar 31, 2016
Words:1373
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