|Year : 2014 | Volume
| Issue : 3 | Page : 133-136
Goltz-Gorlin syndrome: A rare genodermatosis
Dimple Kothari, Chitra S Nayak, Bhushan Madke, Atul Giri
Department of Dermatology, T.N. Medical College and BYL Nair Hospital, Mumbai, Maharashtra, India
|Date of Web Publication||30-Oct-2014|
Chitra S Nayak
Department of Dermatology, T.N. Medical College and BYL Nair Hospital, Mumbai - 400 008, Maharashtra
Source of Support: None, Conflict of Interest: None
We report a case of a 6-year-old girl with typical anomalies of Goltz syndrome characterized by linear and reticulate atrophy of the skin, significant defects of the skeleton, dental structures, eyes, and soft tissues. No family member had such features. A brief overview of the syndrome is presented in an attempt to incorporate associated anomalies reported so far.
Keywords: Focal dermal hypoplasia, Goltz syndrome, linear atrophy
|How to cite this article:|
Kothari D, Nayak CS, Madke B, Giri A. Goltz-Gorlin syndrome: A rare genodermatosis. Indian J Paediatr Dermatol 2014;15:133-6
|How to cite this URL:|
Kothari D, Nayak CS, Madke B, Giri A. Goltz-Gorlin syndrome: A rare genodermatosis. Indian J Paediatr Dermatol [serial online] 2014 [cited 2020 May 27];15:133-6. Available from: http://www.ijpd.in/text.asp?2014/15/3/133/143673
| Introduction|| |
Goltz syndrome, also known as focal dermal hypoplasia (FDH), is a rare genodermatosis. FDH was first described by Lieberman in 1935.  Cole et al. reported a mesodermal and ectodermal dysplasia with bone alterations. Goltz et al. and Gorlin et al. delineated the main characteristics of this nosologic entity and defined its nomenclature.  It is an X-linked dominant disorder characterized by mesoectodermal dysplasia present with cutaneous, ocular, dental and skeletal defects, mainly affecting females and lethal in males, characterized by the classical cutaneous, skeletal, ocular, and dental defects.
| Case report|| |
A 6-year-old female child presented with multiple asymmetrical linear atrophic pigmented streaks and macules in reticulated pattern on extremities and trunk.[Figure 1] She had multiple atrophic scars of varying sizes over the trunk and scalp with evidence of cicatricial alopecia [Figure 2]. She had typical facies, viz. microcephaly, triangular facial outline, pointed chin, and multiple atrophic scars, milia, accessory tragi, microphthalmia, corneal opacities, fissure on lateral canthus of left eye, [Figure 3] upper lip cleft and abnormal dentition with delayed dental development. [Figure 4] She also had polysyndactyly of left toes [Figure 5] and telangiectasia on palms. She had a thin, slender build and speech difficulty. There was no history of similar complaints in other family members. On clinical findings, we considered a differential diagnosis of FDH, ectrodactyly ectodermal dysplasia and incontinentia pigmenti.
|Figure 3: Multiple small atrophic scars, accessory tragi, micro ophthalmia, and fissure on lateral canthus of left eye|
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Radiological assessment of long bones was found to be normal. Left foot X-ray showed soft tissue syndactyly of first and second, third and fourth toes. [Figure 6] Barium swallow was normal. Electrocardiogram, X-ray chest and ultrasonography of abdomen did not reveal any abnormality. Skin biopsy of atrophic streak showed thinned epidermis, decreased thickness of the dermis with thin collagen bundles and presence of fat tissue in the dermis suggestive of FDH [Figure 7].
|Figure 7: Atrophic epidermis, decreased thickness of dermis, thin collagen bundles and fat tissue in the dermis|
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Our patient had cutaneous features such as atrophic macules, streaks, scars, microcornia, micropthalmia, corneal opacities, cleft lip, polysyndactyly and absence of fat herniation, papillomas, osteopathica striata. The diagnosis of Goltz syndrome was made based on the clinical presentation, and on clinicopathological correlation.
| Discussion|| |
Focal dermal hypoplasia is a rare multisystem condition in which developmental defects of the skin are associated with ocular, dental, neural and skeletal abnormalities. It is an X-linked dominant disorder mainly affecting females. Mosaicism for mutations in the PORCN gene on chromosome Xp11.23 has been implicated as the genetic basis of FDH.  Variations in severity are partly due to Lyonization of the X chromosome and partly because of postzygotic genomic mosaicism; 95% of cases are sporadic. Postzygotic somatic mosaicism is thought to be responsible for such sporadic cases. 
Typical cutaneous abnormalities are present from birth comprising pink or red, angular, atrophic macules, often with reticulate grouping. Occasionally they are blistered or eroded at birth.  They may follow Blaschko's lines,  distributed in linear and asymmetrical pattern and dimension may vary from a few millimeters to several centimeters. Linear pattern is prominent on the extremities, while on the cheeks single lines radiating from the angle of the mouth may be seen. There is a tendency to generalized mild ichthyosis of the skin with pruritus and photosensitivity.  Telangiectasia are a common feature. Another feature is fat herniation, seen as soft, pink-brown nodules on the antecubital and popliteal fossae. Raspberry like Papillomas are common on the lips, perineum, buccal mucosa and esophagus. The facial features are characteristic: Small and rounded skull, narrow bridge and a broad nasal tip, pointed chin, triangular facial outline, and thin protruding ears. Short stature, slender build and mental retardation may be seen. Ocular defects tend to be asymmetrical and include microphthalmos, anophthalmos, coloboma, strabismus, keratoconus and corneal opacification. Dental anomalies include anodontia, dental hypoplasia, delayed eruption, irregular spacing, malocclusion, and notched incisors.  Less frequent features are notching of the alveolar ridge, cleft lip and palate. Skeletal malformations are variable and asymmetrical, include osteopathica striata, scoliosis, spina bifida occulta, syndactyly, polydactyly or absence of one or more digits and "lobster-claw" type of deformity. Nails may show dystrophy or anonychia. The hair is usually sparse and brittle, with patchy alopecia of the scalp or pubic area.
Histopathology of atrophic plaque reveals epidermal atrophy with hypoplastic dermis composed of thin collagen bundles. Subcutaneous fat and eccrine appendages are seen just beneath the epidermis, separated by thin collagen fibers. 
The common differential diagnoses for FDH has discussed in [Table 1].
Radiological assessment is required to confirm skeletal changes like syndactyly (bone and soft tissue), lobster-claw deformity and osteopathica striata. The metaphysis of long bones exhibit changes of osteopathica striata. Barium swallow is done to detect papillomas of esophagus. Ultrasonography and computed tomography scan can detect malrotation of the gut and cochlear dysplasia.
Focal dermal hypoplasia requires multi-specialty approach for management from orthopedic, eye, dental, and plastic surgeons).  Flashlamp-pumped pulsed dye laser may be useful in the alleviation of pruritus and to manage papillomas and telangiectasias. Proper genetic counseling should be provided for the parents of affected offspring. Gene sequence analysis for detection of the PORCN gene mutation can be carried out. Prenatal diagnosis is not possible, but ultrasonography can pick up some of the radiological abnormalities. The carriers can be traced by genetic mapping.
Ophthalmologic assessment in our patient revealed findings of micropthalmia, microcornea and decreased vision. Speech therapy was initiated in the patient. Psychiatric assessment was done, and it revealed subnormal intelligence. Dental reference to educate parents about dental cleanliness, care was done wherein the patient was advised to undergo extraction of the carious teeth.
The patient was referred for gene sequence analysis and genetic counseling of parents. Primary report of the gene sequence is awaited.
We are reporting this case as it is rare genodermatoses showing a few but not all characteristic findings of Goltz syndrome in our patient.
What's new - osteopathica striata as associated finding was found in most of the cases as a part of Goltz syndrome. However our case did not have this finding, though it had other classical features. Thus, the constellation of classical finding described may not be seen in all cases or it may appear later on.
| References|| |
|1.||Liebermann S. Atrophoderma linearis maculosa et papillomatosis congenitalis. Acta Derm Venereol (Stock) 1935;16:476-84. |
|2.||Goltz RW, Peterson WC, Gorlin RJ, Ravits HG. Focal dermal hypoplasia. Arch Dermatol 1962;86:708-17. |
|3.||Leoyklang P, Suphapeetiporn K, Wananukul S, Shotelersuk V. Three novel mutations in the PORCN gene underlying focal dermal hypoplasia. Clin Genet 2008;73:373-9. |
|4.||Temple IK, MacDowall P, Baraitser M, Atherton DJ. Focal dermal hypoplasia (Goltz syndrome). J Med Genet 1990;27:180-7. |
|5.||Daly JF, Vermont R. Focal dermal hypoplasia. Cutis 1968;4:1354-9. |
|6.||Jackson R. The lines of Blaschko: A review and reconsideration: Observations of the cause of certain unusual linear conditions of the skin. Br J Dermatol 1976;95:349-60. |
|7.||Ureles SD, Needleman HL. Focal dermal hypoplasia syndrome (Goltz syndrome): The first dental case report. Pediatr Dent 1986;8:239-44. |
|8.||Maymí MA, Martín-García RF. Focal dermal hypoplasia with unusual cutaneous features. Pediatr Dermatol 2007;24:387-90. |
|9.||Riyaz N, Riyaz A, Chandran R, Rakesh SV. Focal dermal hypoplasia (Goltz syndrome). Indian J Dermatol Venereol Leprol. 2005;71:279-81. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]