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      Focal Dermal Hypoplasia or Goltz Syndrome: A Rare Association with Keratoconus

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          Abstract

          Sir, Focal dermal hypoplasia (FDH) or Goltz syndrome was first described by Liebermann in 1935 as “atrophodermia linearis maculosa et papillomatosis congenitalis.” Goltz in 1962 mentioned the term “FDH.” It is a rare syndrome identified by dysplasia of structures derived from ectoderm and mesoderm. Hence, named as congenital ectodermal-mesodermal dysplasia also.[1] Incidence is 1:50,000–1:150,000 in the general population. It primarily affects the cutaneous and skeletal system, but ocular, dental, and central nervous system anomalies are fairly common. Being an X-linked dominant condition only females are affected, whereas male dies in utero. Skeletal abnormalities are found in around 80% cases.[2] We report a case of FDH in an 11 weeks, low birth weight female infant born out of nonconsanguineous marriage from an unaffected parent. At the time of presentation to us she had multiple inflamed and eroded patches over posterior thigh, back, and buttock [Figure 1]. After 6 weeks, she developed multiple round hypopigmented atrophied patches of varying sizes developed bilaterally over the back of thigh, buttock, lateral abdomen, and umbilicus in a blaschkoid pattern. Lesions were cribriform and surrounded by a hyperpigmented border [Figure 2a]. On skeletal examination, there were some typical changes. Hand feet showed syndactyly of right 3rd and 4th finger, polydactyly of left foot, and lobster deformity of the right foot [Figure 2b and d]. Nails of hand were dystrophic. Face showed round shape, pointed chin, incomplete left-sided cleft lip, narrow depressed nasal bridge, widened flared nasal ala with less scalp, and eyebrow hair [Figure 2c]. On ophthalmology referral, they found bilateral keratoconus. X-ray from long bones showed osteopathia striata. Biopsy from the atrophic, hypopigmented lesion of the back of thigh showed normal epidermis and thin dermis with scanty collagen. Multiple discrete areas of mature adipocytes impinging epidermis noted. This rare skin disease is due to a mutation in PORCN gene that is located in X chromosome. PORCN is a part of porcupine gene family detected first in drosophila. It is responsible for the synthesis of endoplasmic reticulum protein with multiple transmembrane domains. It is also a regulator of Wnt signaling.[3] Eye features include microphthalmia with bilateral coloboma of the iris, ectopia lentis, strabismus, anophthalmia, nystagmus, irregularities of the pupils, and corneal defects such as keratoconus, photophobia, and ptosis.[4] Eye lesions itself are not so common with this syndrome and keratoconus was reported in very few cases. Musculoskeletal defects are osteopenia, spina bifida, scoliosis, etc. Hypermobile joint with hand foot asymmetry is evident many times. Syndactyly, ectrodactyly polydactyly, hypoplasia, or agenesis of fingers with a lobster deformity in extreme cases is seen among hand foot defect.[5] The lobster defect of the foot was seen in our cases also. Figure 1 Inflamed eroded areas at presentation Figure 2 (a) Cribriform atrophy over posterior thigh (b) lobster foot (c) left-sided partial cleft lip (d) lobster foot(closer view) Treatment of Goltz syndrome is mainly supportive. Genetic counseling, local skin care, correction of systemic associations and deformities are the mainstay of therapy. Proper rehabilitative measures are of utmost importance for a grown up child.[4] Declaration of patient consent 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. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

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          Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

          Focal dermal hypoplasia (FDH) is an X-linked dominant multisystem birth defect affecting tissues of ectodermal and mesodermal origin. Using a stepwise approach of (i) genetic mapping of FDH, (ii) high-resolution comparative genome hybridization to seek deletions in candidate chromosome areas and (iii) point mutation analysis in candidate genes, we identified PORCN, encoding a putative O-acyltransferase and potentially crucial for cellular export of Wnt signaling proteins, as the gene mutated in FDH. The findings implicate FDH as a developmental disorder caused by a deficiency in PORCN.
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            Focal dermal hypoplasia.

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              Goltz syndrome (focal dermal hypoplasia) with unilateral ocular, cutaneous and skeletal features: case report

              Background Goltz syndrome or focal dermal hypoplasia (FDH) is an uncommon multisystem disorder. Herein, we report a typical case of FDH with unilateral ocular, cutaneous and skeletal features. Case Presentation a 4-year-old girl presented with microphthalmos and iris coloboma of the left eye, facial asymmetry, and a low-set protruding ear. Cutaneous changes included hypopigmented atrophic macules on the left side of the face, chest, abdomen and limbs. Characteristic lobster claw deformity of left hand and oligodactyly and syndactyly of left foot were present. Conclusions FDH usually affects both sides of the body. This case represents the unusual unilateral manifestation of the syndrome.
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                Author and article information

                Journal
                Indian J Dermatol
                Indian J Dermatol
                IJD
                Indian Journal of Dermatology
                Medknow Publications & Media Pvt Ltd (India )
                0019-5154
                1998-3611
                Jan-Feb 2016
                : 61
                : 1
                : 104-105
                Affiliations
                From the Department of Dermatology, Burdwan Medical College and Hospital, Burdwan, West Bengal, India. E-mail: surajitsurajitbabu@ 123456gmail.com
                Article
                IJD-61-104
                10.4103/0019-5154.174055
                4763621
                26955112
                Copyright: © Indian Journal of Dermatology

                This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.

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                Correspondence

                Dermatology

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