Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin

Abstract

suggestive of collodion membrane at birth. Child started developing tonic-clonic seizures by 6 months of age. He developed eye contact and started holding his head at 6 months of age. He started sitting at 12 months of age. He was operated for right-sided inguinal hernia at the age of 11 months. At presentation, he was unable to speak monosyllables.On physical examination, weight was 7 kg, length was 68 cm and head circumference was 39 cm (all <3 rd percentile for age). He had a prominent forehead with large ears [ Figure 1]. Cutaneous examination revealed nonscarring alopecia over the scalp and eyebrows. Skin over the abdomen was rough in texture due to multiple, spiny, uniformly distributed, white follicular projections [ Figure 2]. Skin over the scalp, face and shin had irregular icthyotic patches. Palms, soles, dentition, oral cavity, genitalia and nails appeared normal. Ophthalmic examination was normal except marked photophobia. Routine hematological and biochemical investigations were normal. Skeletal survey, electrocardiogram, ultrasonography of the abdomen, brainstem evoked auditory response failed to reveal any abnormality. Computed tomography scan head revealed evidence of subtle loss of the right occipital and parietal subcortical white matter. Skin biopsy [ Figure 3] showed hyperkeratosis in epidermis along with keratotic follicular plugging and thin ABSTRACT Ichthyosis follicularis alopecia photophobia (IFAP) syndrome (OMIM 308205) is a rare genetic disorder characterized by a triad of follicular ichthyosis, congenital atrichia of scalp and photophobia. Until date, only 40 patients have been mentioned in the worldwide literature. The management of this syndrome remains a daunting task because very few case reports have described interventions for treating various clinical features of this entity. We describe IFAP syndrome in an 18-month-old male child, who showed transient improvement in his cutaneous features with oral isotretinoin therapy.

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: A case report and review of cases reported from India

“…However, there was reoccurrence after discontinuation of treatment. [16] Life expectancy of patients can vary from normal survival to death in the neonatal period from cardiopulmonary complications. [4]…”

Ichthyosis follicularis with alopecia and photophobia syndrome (IFAP): A Case Report

“…IFAP syndrome is a rare autosomal recessive X-linked disease [1][2][3][4]. It is characterized by the triad of alopecia universalis, severe photophobia, and spiny keratotic follicular papules distributed symmetrically on scalp and along the extensor surfaces of the extremities [5]. At birth, patients may present as collodion babies.…”

“…Alopecia is non scarring, congenital [5], non-progressive, and widespread. Up to 40% of patients also have psoriasiform plaques, cheilitis, hypohydrosis, nail dystrophy, atopic dermatitis, and rarely, keratoderma [4,5]. Photophobia may be congenital or develop later in life.…”

“…IFAP syndrome is an unusual autosomal recessive X-linked disease characterized by the triad of alopecia universalis, severe photophobia, and follicular ichthyosis [1][2][3][4]. Other findings may determine variations in its clinical presentation [1,4,5]. It is caused by loss of function of the gene MBTPS2, essential for cholesterol homeostasis.…”

“…Twenty different mutations of this gene have been reported [2]. Treatment is based on emollients and retinoids [1,5].…”