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Ichthyosis follicularis with congenital atrichia, nail dystrophy and palmoplantar keratoderma. Variant of IFAP syndrome or a new entity?

  • Author(s): Rai, Vandana Mehta
  • Shenoi, S D
  • et al.
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Ichthyosis follicularis with congenital atrichia, nail dystrophy and palmoplantar keratoderma. Variant of IFAP syndrome or a new entity?
Vandana Mehta Rai MD, S D Shenoi MD
Dermatology Online Journal 11 (3): 36

Department of Skin and Sexually Transmitted Disease, Kasturba Medical College, Manipal 576104, Karnataka. vandanamht@yahoo.com

Abstract

A 23-year-old man was seen for dry, rough skin and alopecia present since birth. There was no history of impaired sweating, photophobia, or lacrimation. Examination revealed generalized cutaneous thorn-like projections with nonscarring alopecia, twenty-nail dystrophy, and palmoplantar keratoderma.



Introduction

Ichthyosis follicularis is a keratinization disorder characterized by spiny follicular papules all over the body since birth. It can occur as a part of ichthyosis follicularis, atrichia, photophobia (IFAP) syndrome.


Clinical synopsis


Figure 1 Figure 2

Figure 3

A 23-year-old man was seen for dry rough skin and alopecia present since birth. He was born of a nonconsanguinous marriage; his history indicated normal growth and developmental milestones. There was no history of photophobia, lacrimation, reduced sweating, skeletal anomaly, or dental abnormality. Similar complaints were absent in other family members. He gave history of impaired hearing in the left ear since age 5, with occasional ear discharge. Cutaneous examination revealed spiny follicular papules over the trunk, back, upper and lower extremities; nonscarring universal alopecia; palmoplantar keratoderma; and twenty-nail dystrophy. Oral cavity showed bilateral linear hyperpigmentation on the buccal mucosa. Ophthalmic examination was normal. Ear examination showed a large oval perforation of the left tympanic membrane, attributed to otitis media. Laboratory examination including hemogram, urinanalysis, renal function, liver function, and blood sugars were within normal limits. HIV Elisa and HbsAg were negative. Biopsy of a spiny-follicular papule showed orthokeratosis with follicular plugging and a lymphocytic infiltrate in the dermis. Nail matrix biopsy showed compact hyperkeratosis with mild focal lymphocytic infiltrate in the dermis. Based on the history and clinical examination a diagnosis of IFAP syndrome was considered. Our patient may be a variant of IFAP syndrome as photophobia was absent.


Discussion

Ichthyosis follicularis (IF) was characterized as a distinct entity by Macleod in 1909 [1], although Lesser first used the term IF in 1885 to describe a 6-year-old boy with congenital alopecia of scalp and eyebrows and keratotic follicular papules on the body. He believed that the hyperkeratotic follicular papules were a manifestation of a localized form of ichthyosis[2]. Patients with IF share a unique appearance because of striking alopecia, severe photophobia and generalized cutaneous thornlike projections. The spines impart a peculiar sensation on palpation which has been described as resembling a nutmeg grater or the prickly surface of a rose leaf. Teeth and nails are normal and no abnormalities of sweat production have been noted. Hyperkeratosis is sometimes present over the elbows and knees but there is no palmo plantar keratoderma. The histopathological findings are rather nonspecific and include dilated follicles filled with keratin plugs that extend above the level of the skin forming acuminate papules, absence of sebaceous glands, and normal sweat glands [3]. A limited number of patients with this disorder have been described and X-linked recessive inheritance has been proposed [4]. Males with IFAP have an inexorable progression of corneal vascularization, loss of vision, and retinal vascular tortuosity may be a clinical sign of carrier status in females [5]. IF is associated with a congenital absence or marked defect in the pilosebaceous apparatus. The follicular hyperkeratosis was believed to be secondary to the obstruction of sebum. The disorder appears to be familial and has been reported simultaneously in a mother and daughter [6]. In view of the nail dystrophy and palmoplantar keratoderma, Clouston syndrome (hidrotic ectodermal dysplasia) was also considered in the differential diagnosis however there was no history of reduced sweating in our patient and biopsy was inconclusive. Although IFAP is triad of IF, alopecia and photophobia it has been reported with mental retardation, seizures, cutaneous infections, and inguinal hernia [7]. There have been no reported cases of IFAP syndrome in Indian literature to our knowledge. Our patient may be a variant of IFAP syndrome because photophobia is absent and additional features are present, including twenty-nail dystrophy and palmoplantar keratoderma.

References

1. Macleod JMH: Three cases of 'ichthyosis follicularis' associated with baldness. Br J Dermatol 1909;21:165-189

2. Lesser E: Ichthyosis follicularis, in Ziemssen N(ed): Ziemssen's Handbook of skin diseases. New York, William Wood & Co, 1885, pg 236-237.

3. Eramo LR, Esterly NB, Zieserl EJ, Stock EL, Herrmann J. Ichthyosis follicularis with alopecia and photophobia. Arch Dermatol 1985;121:1167-74

4. Cambiagi S, Barbareschi M, Tadini G. Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients. J Am Acad Dermatol 2002;46:156-8

5. Traboulsi E, Aaked N, Megarbane H, Megarbane A. Ocular findings in Ichthyosis follicularis, alopecia, photophobia (IFAP) syndrome. Ophthalmic Genet 2004;25:153-6

6. Sato-Matsumura KC, Matsumura T, Kumakiri M, Hosokawa K, Nakamura H, Kobayashi H, Ohkawara A. Ichthyosis follicularis with alopecia and photophobia in a mother and daughter. Br J Dermatol 2000;142:157-62

7. Boente MC, Bibas-Bonet H, Coronel AM, Asial RA. Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures,mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome. Eur J Dermatol 2000;10:98-102.

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