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Focal facial dermal dysplasia type 4
Piyush Kumar1, Anupam Das2
1 Department of Dermatology, Katihar Medical College and Hospital, Katihar, Bihar, India
2 Department of Dermatology, KPC Medical College and Hospital, Kolkata, West Bengal, India
|Date of Web Publication||24-Jan-2020|
Department of Dermatology, KPC Medical College and Hospital, Kolkata, West Bengal
Source of Support: None, Conflict of Interest: None
A 17-year old girl presented with asymptomatic, atrophic scars on both cheeks since birth. Her parents gave a history of unassisted vaginal delivery, following an uncomplicated pregnancy. There was a history of fluid filled lesions (2 years ago), on the site of hypopigmented atrophic scars. The lesions used to accumulate clear fluid, despite multiple attempts of draining the fluid. The lesions were not accompanied by any erythema or discomfort, and did not increase in number. Family history was non-contributory. Cutaneous examination showed three circular to oval, hypopigmented, atrophic scars of 1–1.5 cm in diameter, over the right pre-auricular region [Figure 1]. One similar oval lesion of 2 cm diameter, accompanied by a tiny similar lesion at its lower pole, was noted in the left pre-auricular region [Figure 2]. Some of these lesions showed a hyperpigmented rim with long thin fine hairs, resembling membranous aplasia cutis congenita. Computed tomography scan of the skull did not show any anatomical abnormalities. A clinical diagnosis of focal facial dermal dysplasia type 4 (FFDD4) was made based on clinical findings, and biopsy could not be performed.
|Figure 1: Three atrophic, hypopigmented scars in the right pre-auricular region|
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|Figure 2: One large atrophic, hypopigmented scar and a similar tiny lesion in the left pre-auricular region|
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Focal facial dermal dysplasias (FFDDs) are a group of inherited developmental facial defects that occur at the site of the dermal fusion along the fronto-nasal and maxillary prominences (types 1, 2, and 3) or along the maxillary and mandibular prominences (type 4) and resemble lesions of membranous aplasia cutis congenita clinically.,
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The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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| References|| |
Lee BH, Aggarwal A, Slavotinek A, Edelmann L, Chen B, Desnick RJ. The focal facial dermal dysplasias: Phenotypic spectrum and molecular genetic heterogeneity. J Med Genet 2017;54:585-90.
Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, et al.
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. Hum Mol Genet 2013;22:696-703.
[Figure 1], [Figure 2]