Indian Journal of Dermatology
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Table of Contents 
Year : 2012  |  Volume : 57  |  Issue : 2  |  Page : 161-163
IFAP syndrome with rickets and normal vitamin D status

1 Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Kashmir, India
2 Department of Dermatology, SKIMS Medical College, Srinagar, Kashmir, India
3 Department of Pathology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Kashmir, India

Date of Web Publication20-Apr-2012

Correspondence Address:
Bashir Ahmad Laway
Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Kashmir
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0019-5154.94299

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How to cite this article:
Laway BA, Verma SK, Bashir MI, Ganie MA, Mir SA, Ahmad SM, Lone MI. IFAP syndrome with rickets and normal vitamin D status. Indian J Dermatol 2012;57:161-3

How to cite this URL:
Laway BA, Verma SK, Bashir MI, Ganie MA, Mir SA, Ahmad SM, Lone MI. IFAP syndrome with rickets and normal vitamin D status. Indian J Dermatol [serial online] 2012 [cited 2021 Dec 5];57:161-3. Available from:


Childhood erythroderma due to ichthyosis, a disorder of keratinization, may disturb vitamin D synthesis, and hence, the mineralization of bones. Defects in mineralization, in the form of rickets, have been described in people with ichthyosiform disorders possibly due to vitamin D deficiency. [1] Literature is scarce with the description of rickets in association with the ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome. We describe here the clinical course of a child with the IFAP syndrome who also had non-nutritional rickets.

A 14-year-old child, product of a non-consanguineous marriage, born by full-term normal delivery, second in birth order, presented with limb deformities and growth impairment, apparently noticed for the last three to four years. His mother also reported that the child had congenital alopecia and was born with dry scaly skin over the whole body. There was also history of photophobia since birth, with redness and watering of eyes. There was no history of reduced sweating, nail or dental abnormality, seizures, or respiratory distress during the neonatal period. Similar disease of the skin or bone was absent in siblings or any family members. On examination, generalized thick, dry, and pigmented scales with a sand papery texture were seen, more so over the abdomen. He also had alopecia with loss of eyebrows and eyelashes; examination of the scalp revealed scanty, hypopigmented, lusterless, brittle hair [Figure 1]. The nails were normal looking and his oral mucosa was normal. His ophthalmic examination was normal, hearing was within normal limits. Examination of the nervous system did not reveal any abnormality. The patient had bilateral genu valgum deformity, with widening of the wrists, beading of the ribs, and a protruding belly. Anthropometric measurements were as follows: height = 141 cm [twenty-fifth percentile by the Indian Council of Medical Research (ICMR) standards], upper segment = 70 cm, lower segment = 71 cm, weight = 28 kg, head circumference = 41 cm, and arm span = 141 cm. X-Rays of the wrists revealed metaphyseal cupping, fraying, and splaying at the distal ends of the radius and ulna; in addition rachitic changes were seen at the distal ends of the femur and proximal tibia with genu valgum deformity of both knees [Figure 2]. Investigations revealed hypocalcemia, hypophosphatemia, and increased alkaline phosphatase. Hormonal investigations revealed increased serum intact parathyroid hormone (PTH), normal levels of 25-hydroxy-vitamin D, and 1, 25-hydroxy-vitamin D levels [Table 1]. Other routine investigations like hemogram, renal and liver function tests, electrolytes, and blood glucose were within normal range. Histopathological findings on scalp biopsy revealed marked hyperkeratosis, with complete absence of a granular cell layer, hyperkeratosis epidermis acanthosis, and vacuolar degeneration with scanty perivascular lymphoid infiltrate [Figure 3]. In view of the presence of generalized ichthyotic skin, alopecia, photophobia, and rachitic features, a diagnosis of IFAP syndrome with rickets was made. The patient was put on oral supplementation preparations of calcium and vitamin D3 and is on follow-up.
Figure 1: Clinical photograph of the case showing: a) Alopecia, scanty eyelashes, and eyebrows ;b) Abdomen showing the thorny appearance of ichthyosis

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Figure 2: X-Rays showing: a) Widening of metaphyses, cupping, and fraying in the distal ends of the radius and ulna; b) Cupping and fraying at distal end of the femur and proximal tibia - features suggestive of rickets

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Figure 3: Skin punch biopsy in ichthyosis showing: Hyperkeratosis with complete absence of granular cell layer. Hyperkeratosis epidermis (200×, H and E)

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Table 1: Biochemical and Hormonal Parameters

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Patients with the IFAP syndrome have a typical appearance because of the alopecia, photophobia, and generalized follicular hyperkeratosis. In most cases, the teeth and nails are normal and no abnormalities in sweat production are reported. The spine imparts a peculiar sensation on palpation, which has been described as resembling a 'nutmeg grater' or 'the prickly surface of a roseleaf'. Hyperkeratosis is sometimes seen over the elbows, knees, and dorsal fingers, but the palms and soles are of normal thickness. [2],[3] Abnormal keratinization disorders such as ichthyosis may be associated with rickets possibly due to vitamin D deficiency, although vitamin D and its metabolites have not been measured in all the studies. The present patient had clinical, biochemical, and radiological evidence of rickets and evidence of secondary hyperparathyroidism, but the serum levels of vitamin D were in the normal range. The cause of rickets in the present patient is not known at present. Sethuraman et al., reported a series of five patients of ichthyosiform erythroderma with rickets; in one of their patients, the serum levels of vitamin D and PTH were within normal limits. [1] The authors explained these results with prior vitamin D therapy, however, in the present case such a phenomenon cannot explain the normal levels of vitamin D levels, because he continues to have rickets with hypocalcemia, hypophosphatemia, high alkaline phosphatase, and high PTH in the presence of normal levels of vitamin D. In a study by Milstone et al., patients with ichthyosis, with elevated parathyroid hormone values, did not have significantly lower 25-hydroxyvitamin D values than those with normal parathyroid hormone values. [4] Another possibility partly explaining his rickets, alopecia, and ichthyosis, in the presence of normal levels of 25(OH) 2 D and 1,25(OH) 2 D, could be due to the resistance to the action of 1,25(OH) 2 D, which is the final product in the metabolic pathway for the activation of vitamin D. Alopecia has been found in patients with resistance to the action of activated vitamin D. The epidermis and hair follicles contain a calcium binding protein that is vitamin D-dependent. [5]

In summary, a young child with IFAP syndrome is presented, who also had clinical, radiological, and biochemical evidence of rickets, with secondary hyperparathyroidism. He had normal levels of vitamin D metabolites.

   References Top

1.Sethuraman G, Khaitan BK, Dash SS, Chandramohan K, Sharma VK, Kabra M, et al. Ichthyosiform erythroderma with rickets: report of five cases. Br J Dermatol 2008;158:603-6.   Back to cited text no. 1
2.Boente MC, Bibas-Bonet H, Coronel AM, Ahsial 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.  Back to cited text no. 2
3.Rai VM, Shenoi SD. Ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome. Indian J Dermatol Venereol Leprol 2006;72:136-8.  Back to cited text no. 3
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4.Milstone LM, Bale SJ, Insogna KL. Secondary hyperparathyroidism in patients with ichthyosis is not caused by vitamin D deficiency or ingestion of retinoids. Arch Dermatol 1993;129:648.  Back to cited text no. 4
5.Rosen JF, Fleischman AR, Finberg L, Hamstra A, DeLuca HF. Rickets with alopecia: An inborn error of vitamin D metabolism. J Pediatr 1979;94:729-35.  Back to cited text no. 5


  [Figure 1], [Figure 2], [Figure 3]

  [Table 1]

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