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E-IJD CASE REPORT
Year : 2015  |  Volume : 60  |  Issue : 2  |  Page : 216
Gorlin-Goltz syndrome: A rare case


1 From the Department of Dermatology, Venereology and Leprosy, Pondicherry Institute of Medical Sciences, Pondicherry, Puducherry, India
2 Department of Dermatology, Venereology and Leprosy, Katihar Medical College, Katihar, Bihar, India
3 Department of Pathology, Katihar Medical College, Katihar, Bihar, India

Date of Web Publication3-Mar-2015

Correspondence Address:
Dr. Satyaki Ganguly
Department of Dermatology, Venereology and Leprosy, Pondicherry Institute of Medical Sciences, Pondicherry - 605 014, Puducherry
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0019-5154.152581

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   Abstract 

Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.


Keywords: Gorlin syndrome, Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome, palmar pits


How to cite this article:
Ganguly S, Jaykar KC, Kumar R, Jha AK, Banerjee P K. Gorlin-Goltz syndrome: A rare case. Indian J Dermatol 2015;60:216

How to cite this URL:
Ganguly S, Jaykar KC, Kumar R, Jha AK, Banerjee P K. Gorlin-Goltz syndrome: A rare case. Indian J Dermatol [serial online] 2015 [cited 2019 Oct 18];60:216. Available from: http://www.e-ijd.org/text.asp?2015/60/2/216/152581

What was known?
Gorlin-Goltz syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri along with some other minor features.



   Introduction Top


Gorlin-Goltz syndrome, also known as nevoid basal cell carcicoma syndrome is an autosomal dominantly inherited disorder with multiple basal carcinomas, jaw cysts, palmar/plantar pits, intracranial calcifications, facial dysmorphism and skeletal abnormalities. [1] Clinically this syndrome is characterized by development of multiple basal cell carcinomas at a young age, but has a good prognosis since they rarely metastasize.


   Case Report Top


A 65-years-old male patient presented to the dermatology out-patient department with an ulcerated swelling on the forehead. According to the patient he had a dark colored elevated swelling on the forehead for the past 20 years, which has slowly increased in size over the time and became ulcerated for the past 3 months. On examination there was a single round ulcerated plaque on the forehead at the hair margin with elevated edges and pale granulation tissue on the floor [Figure 1]. A thorough examination revealed multiple hyperpigmented papules with smooth surfaces over face, post auricular area [Figure 2] and back. A similar larger hyperpigmented plaque was seen on the back and it showed superficial ulceration [Figure 3]. Both the palms showed multiple pits [Figure 4]. There was no history of similar complaints in his parents. Examination of the oral cavity revealed a single nodule on the right end of upper gingiva, which turned out to be an odontogenic cyst [Figure 5]. A skin biopsy was done from the edge of the ulcer and it showed groups of basaloid cells [Figure 6] and keratohyalin cysts [Figure 7]. Radiographs of chest (AP view), spine and skull were done and failed to reveal any abnormality. Based on the above findings a diagnosis of Gorlin-Goltz syndrome or basal cell naevus syndrome (BCNS) was made. The patient was counselled and referred to the surgery and dental department for further treatment.
Figure 1: Ulcer on the forehead

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Figure 2: Post auricular lesion

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Figure 3: Ulcerated hyperpigmented plaque on the back

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Figure 4: Palmar pits

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Figure 5: Odontogenic cyst on the Maxilla

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Figure 6: Groups of basaloid cells (H and E, ×40)

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Figure 7: Keratohyaline cysts (H and E, ×40)

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   Discussion Top


Gorlin and Goltz in 1960 described basal cell nevus syndrome, also known as Gorlin syndrome, Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome as a classical triad of multiple basocellular epitheliomas, keratocysts in the jaws and bifid ribs. [2],[3] It is autosomal dominantly inherited and caused by mutations in the PTCH1 gene. [1] The major features of BCNS are pigmented basocellular carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. [4] There are numerous minor features, some of the important ones are cardiac or ovarian fibroma, macroencephaly, bifid ribs, cleft palate, medulloblastoma, mandibular prognathia, frontal and biparietal bossing, meningiomas, fibrosarcoma, rhabdomyosarcoma and ocular hypertelorism. [4] Diagnosis of BCNS is established by presence of two major or one major and two minor criterias. [5] Basocellular carcinomas in the Gorlin-Goltz syndrome may vary from a single to hundreds in number and they can have a wide spectrum of clinical presentations. [6] They commonly involve the thorax and the cervicofacial area. [4] Histologically, the lesions have the classical appearance of basal cell carcinomas with nests of basaloid cells and peripheral palisading. Palmar and plantar pits, seen in 50% to 70% of the patients [6] are caused due to partial or complete absence of stratum corneum. The treatment of Gorlin-Goltz syndrome includes the treatment of the specific complaints and a multidisciplinary approach. Patients are advised sun protection as UV exposure increases the risk of basal cell carcinomas. Limited number of lesions can be treated by surgery. Other treatments include topical imiquimod 5% cream, laser abalation, photodynamic therapy and oral isotretinoin 0.5-1.0 mg/kg/day. [5]

In our patient the presence of two dermatological major criteria; pigmented basocellular carcinoma and palmar pits proved the diagnosis of Gorlin-Goltz syndrome. This case illustrates the importance of a thorough examination including examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.


   Conclusions Top


1. The possibility of Gorlin-Goltz syndrome has to be kept in mind in a patient with lesions suggestive of basal cell carcinoma and multiple naevi.

2. A thorough examination of palms and soles, oarl cavity and detailed investigations may be necessary to prove the diagnosis.

3. The criteria for Gorlin-Goltz syndrome may be fulfilled even in the absence of some of the prominent features.

 
   References Top

1.
Lo Muzio L. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis 2008;3:32.  Back to cited text no. 1
    
2.
Oro EA. Basal cell nevus cell syndrome. In: Fitzpatrick TB, Wolff K, Goldsmith AL, Gilcherst AB, Paller SA, Leffell JD, editors. Dermatology in General Medicine. 7 th ed. New York: Mc-Graw-Hill; 2008. p. 1042-8.  Back to cited text no. 2
    
3.
Gorlin RJ, Goltz RW. Multiple nevoid basal-cell epi-thelioma, jaw cyst and bifid rib: A syndrome. New Engl J Med 1960;5:204-10.  Back to cited text no. 3
    
4.
Ortega García de Amezaga A, GarcíaArregui O, Zepeda Nuño S, AchaSagredo A, Aguirre Urizar JM. Gorlin-Goltz syndrome: Clinicopathologic aspects. Med Oral Patol Oral Cir Bucal 2008;13:E338-43.  Back to cited text no. 4
    
5.
Bansal M, Nivash S, Manchanda K, Khanna R. Basal cell nevus syndrome: A rare entity. Indian J Dermatol Venereol Leprol 2012;78:666.  Back to cited text no. 5
[PUBMED]  Medknow Journal  
6.
Manfredi M, Vescovi P, Bonanini M, Porter S. Nevoid basal cell carcinoma syndrome: A review of the literature. Int J Oral Maxillofac Surg 2004;33:117-24.  Back to cited text no. 6
    

What is new?

  1. A thorough examination including examination of palms and soles and detailed investigations are necessary in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.
  2. Patients may have only some of the classical features but still fulfil the criteria for Gorlin-Goltz syndrome.


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]



 

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    Abstract
   Introduction
   Case Report
   Discussion
   Conclusions
    References
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