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CASE REPORT
Year : 2013  |  Volume : 58  |  Issue : 6  |  Page : 481-484
Familial multiple basal cell carcinoma (Gorlin's syndrome): A case report of a father and son


1 Department of Dermatology, Krishna Institute of Medical Sciences, Karad, Maharashtra, India
2 Department of Surgery, Krishna Institute of Medical Sciences, Karad, Maharashtra, India

Date of Web Publication17-Oct-2013

Correspondence Address:
Balkrishna Nikam
Department of Dermatology, Krishna Institute of Medical Sciences, Karad - 415 110
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0019-5154.119965

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   Abstract 

Gorlin syndrome is a rare familial disorder characterized by numerous basal cell carcinomas along with facial and skeletal findings. Here, we report a father and son case, presented with features of Gorlin syndrome.


Keywords: Gorlin Syndrome, nevoid basal cell carcinoma syndrome, palmar pits


How to cite this article:
Nikam B, Kshirsagar A, Shivhare P, Garg A. Familial multiple basal cell carcinoma (Gorlin's syndrome): A case report of a father and son. Indian J Dermatol 2013;58:481-4

How to cite this URL:
Nikam B, Kshirsagar A, Shivhare P, Garg A. Familial multiple basal cell carcinoma (Gorlin's syndrome): A case report of a father and son. Indian J Dermatol [serial online] 2013 [cited 2019 Jun 20];58:481-4. Available from: http://www.e-ijd.org/text.asp?2013/58/6/481/119965

What was known?
Gorlin syndrome is a rare autosomal dominant syndrome characterized by multiple basal cell carcinoma often presents in second and third decade of life with palmoplantar pits, acral epidermoid cyst, and odontogenic keratocysts.



   Introduction Top


Gorlin syndrome is an autosomal-dominant inherited disorder with complete penetrance and variable expressivity. It is characterized by the occurrence of multiple basal cell carcinomas in early adulthood along with odontogenic cyst of jaw, palmoplantar pits, intracranial ectopic calcifications, osseous anomaly of ribs, spine, and skull with characteristic facies.[1] The estimated prevalence varies from 1/57000 to 1/256 000.[2] It arises in all ethnic groups, but most of reported cases are in whites. Males and females are equally affected.[3]


   Case Report Top


A 70-year-old male presented with multiple black colored papules and plaques of various sizes present over the left infraorbital region and behind both retroauricular ear pinnae. This slowly progressed to form ulcerative lesions since last 1 year. On examination, the lesion over cheek was 4 × 3 cm in size with rolled on margins and hemorrhagic crust at the center [Figure 1]. Similar lesion of 2 × 1 cm size with mild oozing was also present behind the ear pinnae [Figure 2]. Apart from this, the patient also had multiple blackish hyperpigmented plaques of varying sizes ranging from 0.5 cm × 0.5 cm to 1 × 1 cm over forehead, scalp, abdomen, and axillae. Along with these he also had multiple palmoplantar pits [Figure 3] and [Figure 4]. Skeletal examination revealed bony deformities such as kyphoscoliosis, short neck, pectus carinatum, and sprengel deformity [Figure 5] and [Figure 6]. On investigating his X-ray skull revealed multiple osteolytic changes in the mandible secondary to odontogenic cyst, anterior wedge compression of D12, L1, L2 vertebral bodies with the presence of anterior osteophyte bodies in L1 and L2 vertebra [Figure 7]. Electencephalogram study was within their normal limits. CT brain did not reveal any abnormality. Diagnosis of basal cell carcinoma (BCC) was confirmed by histopathology [Figure 8]. On the basis of above-said clinical, histopathological, and radiological findings, diagnosis of Gorlin syndrome was made. Further ulcerative BCC lesions were treated with wide excision followed by full thickness graft sutured with 5-0 prolene.
Figure 1: Left infraorbital ulcerative BCC with early papular BCC on forehead

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Figure 2: Retroauricular and supraorbital pigmented BCC

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Figure 3: Plantar pits in father and son

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Figure 4: Close up view of palmar pits

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Figure 5: Short neck, pectus carinatum and palmar pits in father and son

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Figure 6: Prominent sprengel deformity in father and son

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Figure 7: X-ray skull AP/LAT view: Multiple osteolytic changes in the bilateral mandible with no evidence of tooth within the lesions suggesting odontogenic cyst. Dorso-lumbar spine AP/LAT view shows anterior wedge compression of D12, L1, L2, vertebral bodies with osteophytes in L1 and L2

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Figure 8: Multiple tumor islands connected to epidermis made up of basaloid cells with palisading at periphery

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His only unmarried 28 year-old son was also examined for features of Gorlin syndrome and was found to have multiple palmar pits and bony deformities, that is, kyphoscoliosis, short neck, sprengel deformity, and pectus carinatum since birth. But there was no evidence of any basal cell carcinoma at time of examination.


   Discussion Top


Gorlin and Goltz[4] in 1960 described a case of multiple basal cell carcinoma, jaw cyst, and bifid rib as nevoid basal cell carcinoma syndrome (NBCCS) currently known as Gorlin syndrome. Other synonyms for Gorlin syndrome are fifth phacomatosis, jaw cysts-basal cell tumors-skeletal anomalies syndrome, and odontogenic keratocytosis-skeletal anomalies syndrome. This syndrome occurs due to mutation in tumor suppressor gene PTCH situated in the long arm of chromosome 9 (q22.3-q31). This mutated PTCH encodes a transmembrane glycoprotein that acts as an antagonist to members of the Hedgehog family. These intercellular signalling molecules are involved in the formation of multiple embryonic structures and control of cell proliferation. Knudson's suggested a two hit mechanism of tumour suppresser gene where first hit is a germline mutation in PTCH1 gene and is followed by a second hit which is somatic inactivating mutation or deletion. This first hit results in the characteristic developmental abnormalities associated with Gorlin syndrome, and BCC occurs as a result of loss of heterozygosity from the second hit.[5] These patients are extremely sensitive to ionizing radiation, and following radiation therapy showers of BCC can develop in the radiation field following a period of short latency[6] and this has to be kept in mind before subjecting them to such therapies. Evans et al.[7] proposed a diagnostic criteria that was further modified by Kimoni et al.[8] in 1997 [Table 1].
Table 1: Patient should have two major or one major with two minor criteria to diagnose Gorlin syndrome

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Basal cell carcinomas are the most significant phenotypic expression of Gorlin syndrome that affects 80% of Caucasians and 38% of black patients. To diagnose NBCCS, tumor should be more than two in numbers but usually they are numerous. BCC usually appear between puberty and 35th year of life[9] in NBCCS much earlier than in patients without genetic predisposition for the same. Average age of onset of BCC is 23 years.[8] However in the current case, father presented with BCCs in his late sixth decade of life instead of earlier presentation as commonly seen and also BCC were not numerous (seven in number) despite the presence of classical skeletal findings of Gorlin syndrome. On further examining, his 28-year-old son also showed similar skeletal features and palmar pits that were consistent with Gorlin syndrome but there was no evidence of occurrence of BCC in him. Such occurrence is observed in only 10% of patients.[4] Thus, dermatologist should keep in mind that NBCCS can be diagnosed even in the absence of BCC if other features of Gorlin syndrome are present.

Palmar and plantar pits are present in about 65% of the patients. They are asymmetrical and ranges from 2 to 3 mm in diameter and 1 to 3 mm in depth. It usually develops by 10 years of age and percentage of pits increases to more than 85% by the age of 20 years.[2] Pits occur as a result of partial or complete absence of dense keratin in sharply defined areas.

In the setting of multiple BCCs, Gorlin syndrome has to be differentiated from Bazex and Rombo syndromes. Hair shaft abnormalities along with atrophoderma are common in the former and trichoepithelioma in the later, which are not features of Gorlin syndrome.

Different treatment modalities for BCCs are excision, Mohs micrographic surgery, cryotherapy, photodynamic therapy, ablative laser therapy, and topical 5% imiquimod. Surgical excision is preferred for treating nodular or aggressive BCCs. Oral retinoids inhibit the development of new BCCs.[10] Patients are encouraged to use a sunscreen to reduce sun-induced damage and actinic changes.[6]

This case is reported to stress upon the need of regular follow-up for detection of BCC in patients having palmar pits and skeletal features of Gorlin syndrome. Follow up of other family members is also warranted for early detection of BCC and Gorlin syndrome.

 
   References Top

1.Chavan RG, Phadake VA, Joshi R, Khopkar U, Wadhava SL. Gorlins syndrome. Ind J Dermatol 1998;43:175-8.  Back to cited text no. 1
    
2.Lorenzo Lo Muzio. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis 2008;3:32.  Back to cited text no. 2
    
3.Shahmoradi Z, Andalib F, Siadat AH. Naevoid basal cell carcinoma syndrome. Indian J Dermatol Venereol Leprol 2010;76:71-3.  Back to cited text no. 3
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4.Robert J. Gorlin, Robert W. Goltz. Multiple Nevoid Basal-Cell Epithelioma, Jaw Cysts and Bifid Rib-A Syndrome. N Engl J Med 1960;262:908-12.  Back to cited text no. 4
    
5.Shuang P, Qing D, Li-Sha S, Tie-Jun L. Mechanisms of Inactivation of PTCH1 Gene in Nevoid Basal Cell Carcinoma Syndrome: Modification of the Two-Hit Hypothesis. Clin Cancer Res 2010;15:442-50.  Back to cited text no. 5
    
6.Goldstein AM, Bale SJ, Peck GL. DiGiovanna JJ. Sun exposure and basal cell carcinomas in basal nevus syndrome. J Am Acad Dermatol 1993;29:34-41.  Back to cited text no. 6
    
7.Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA. Complications of the naevoid basal cell carcinoma syndrome: Results of a population based study. J Med Genet. 1993;30:460-4.  Back to cited text no. 7
    
8.Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, et al. Clinical Manifestations in 105 Persons with Nevoid Basal Cell Carcinoma Syndrome. Am J Med Genet 1997;69:299-308.  Back to cited text no. 8
    
9.Friedrach RE. Diagnosis and Treatment of Patients with Nevoid Basal Cell Carcinoma Syndrome [Gorlin-Goltz Syndrome (GGS)]. Anticancer Res 2007;27:1783-7.  Back to cited text no. 9
    
10.Cristofolini M, Zumiani G, Scappini P, Piscioli F. Aromatic retinoid in the chemoprevention of the progression of nevoid basal-cell carcinoma syndrome. J Dermatol Surg Oncol 1984;10:778-81.  Back to cited text no. 10
    

What is new?
The occurrence of BCC in late sixth decade instead of early presentation as commonly observed. In this report, it was possible to diagnose NBCCS in his son despite the absence of BCC on the basis of the presence of classical skeletal findings and palmar pits.


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]
 
 
    Tables

  [Table 1]



 

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