Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

Mégarbané, Hala; Mégarbané, André

doi:10.1186/1750-1172-6-29

Cited by 66 publications

(67 citation statements)

References 27 publications

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“…[1] Till date, only 40 patients have been reported worldwide. [1] Effective management of this case is a challenging task with very few reports detailing the therapeutic options.…”

Section: Introductionmentioning

confidence: 99%

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

Chauhan

Gahalaut

Chandra

2015

Indian J Paediatr Dermatol

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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.

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“…[1] Till date, only 40 patients have been reported worldwide. [1] Effective management of this case is a challenging task with very few reports detailing the therapeutic options.…”

Section: Introductionmentioning

confidence: 99%

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

Chauhan

Gahalaut

Chandra

2015

Indian J Paediatr Dermatol

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“…The ichthyosis follicular with atrichia and photophobia syndrome (IFAP; MIM# 308205) is a rare X-linked multiple congenital malformation syndrome [1]. Affected man show the complete clinical phenotype while female carriers may be asymptomatic or may present with minor symptoms [2].…”

Section: Introductionmentioning

confidence: 99%

Expanding the phenotype of IFAP/BRESECK syndrome: A new case with severe hypogammaglobulinemia

Corujeira

Águeda

Monteiro

et al. 2013

European Journal of Medical Genetics

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“…There are <50 cases with IFAP syndrome reported in literature [1], and the oldest reported patient was 33 years old [2]. There is no reported case of IFAP syndrome in literature complicated by CML and squamous cell carcinoma of the oral cavity.…”

Section: Discussionmentioning

confidence: 99%

“…The ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X-linked genetic disorder which is characterized by the triad of IFAP from birth [1][2][3].…”

Section: Introductionmentioning

confidence: 99%

Oral Cavity Squamous Cell Carcinoma in a Case of Ifap Syndrome With Chronic Myeloid Leukemia on Long Term Hydroxyurea: A Rare Presentation

Singh

Reddy

et al. 2017

Asian J Pharm Clin Res

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We report a case of a patient in his early 30s who presented with an ulceroproliferative growth over the left buccal mucosa; he was also on treatment for chronic myeloid leukemia in blast crisis on hydroxyurea and a known case of ichthyosis follicularis, alopecia, and photophobia syndrome. Although a working diagnosis of chloroma/hydroxyurea-induced erosive lichen planus was suspected, the histopathological examination of the lesion was suggestive of squamous cell carcinoma. He was subsequently planned for palliative radiotherapy.

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Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

Cited by 66 publications

References 27 publications

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

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

Expanding the phenotype of IFAP/BRESECK syndrome: A new case with severe hypogammaglobulinemia

Oral Cavity Squamous Cell Carcinoma in a Case of Ifap Syndrome With Chronic Myeloid Leukemia on Long Term Hydroxyurea: A Rare Presentation

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