Clinical and dermatoscopic findings in Bazex-Dupré-Christol and Gorlin–Goltz syndromes
Authors: Danica Tiodorovic-Zivkovic, Iris Zalaudek, Gerardo Ferrara, Caterina M. Giorgio, Karin Di Nola, Enrico M. Procaccini, Giuseppe Argenziano
Journal: Journal of the American Academy of Dermatology (2010)

To the Editor: Gorlin–Goltz syndrome (GGS) and Bazex-Dupré-Christol syndrome (BDCS) are two genodermatoses associated with the development of multiple basal cell carcinomas (BCCs) at an early age.1Gorlin R.J. Goltz R.W. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome.N Engl J Med. 1960; 262: 908-912Crossref PubMed Scopus (680) Google Scholar, 2Bazex A. Dupré A. Christol B. Follicular atrophoderma, baso-cellular proliferations and hypotrichosis.Ann Dermatol Syphiligr (Paris). 1966; 93 ([in French]): 241-254PubMed Google Scholar The clinical diagnosis of GGS is based on the presence of multiple BCCs and palmoplantar pits in association with internal abnormalities and skeletal defects. In contrast, BDCS is characterized by multiple BCCs, congenital hypotrichosis, and follicular atrophoderma. We compared the clinical and dermatoscopic features that led to the correct diagnosis in two patients presenting with multiple BCCs.Case 1. A 16-year-old girl presented for evaluation of numerous nodules on her scalp and face that had developed during the previous 3 years. The physical examination revealed sparse hairs on her scalp and eyebrows, multiple atrophic "ice pick" depressions on the dorsal surfaces of both hands, and partially pigmented or nonpigmented papules on the face and frontal and temporal scalp (Fig 1). Dermatoscopy of the papules confirmed a clinical diagnosis of BCC by revealing arborizing vessels and, in the case of pigmented tumors, multiple blue gray blotches or globules (Fig 1, C). Trichoscopy revealed thinned hairs with a variable shaft diameter, kinked hairs, atrophic hairs, and pili torti (Fig 1, C). Based on the clinical triad of multiple BCCs, follicular atrophoderma, and hypotrichosis, a diagnosis of BDCS was made. Two large BCCs were excised from the scalp and submitted for histopathologic examination. Additional lesions were treated by cryotherapy, shave excision, or the application of imiquimod cream 5%. Her mother had follicular atrophoderma of the hands without other manifestations of BCDS. Her maternal grandfather had a history of BCC, premature hair loss, and similar atrophic lesions on his hands.Case 2. A 35-year-old man presented with a nonpigmented plaque on his right forehead. Dermatoscopic examination confirmed the clinical diagnosis of a superficial BCC; there were multiple small erosions, fine focused telangiectasias, and "spoke-wheel" areas. A complete skin examination with dermatoscopy revealed 10 small (3-5 mm), partially flesh colored and partially pigmented BCCs on his neck, abdomen, and trunk (Fig 2), and two additional superficial BCCs in a burn scar on the upper trunk. Two pigmented papules were excised from the neck and abdomen. A diagnosis of BCC was confirmed by histopathology. The patient reported previous surgical interventions for a jaw cyst, and a suspected diagnosis of GGS was confirmed by the presence of small pits on each palm (Fig 2, B). Dermatoscopy improved the visualization of these palmar pits by showing red dots arranged in a parallel fashion (Fig 2, C).3Kolm I. Puig S. Iranzo P. Malvehy J. Dermoscopy in Gorlin-Goltz syndrome.Dermatol Surg. 2006; 32: 847-851Crossref PubMed Scopus (24) Google Scholar The patient's family history was negative.Fig 2A, Clinical findings in our patient with Gorlin–Goltz syndrome (patient 2). Multiple, pigmented and nonpigmented, small nodular (arrows) and larger superficial basal cell carcinomas (square) are seen on the trunk (arrows). B, Clinical and (C) dermatoscopic image of acral pits located on the palms.View Large Image Figure ViewerDownload Hi-res image Download (PPT)Although both GGS and BDCS are characterized by multiple BCCs affecting younger patients, they have distinguishing clinical features. The hair abnormality in BDCS is a significant finding, because it may represent the initial presentation of the syndrome and may predate the onset of BCCs.4Moreau-Cabarrot A. Bonafé J.L. Hachich N. Jalby B.C. Aubert G. Rolland M. et al.Follicular atrophoderma, basal cell proliferation and hypotrichosis (Bazex-Dupré-Christol syndrome). A study in 2 families.Ann Dermatol Venereol. 1994; 121 ([in French]): 297-301PubMed Google Scholar Hair changes are reported in 85% of patients and include hair shaft abnormalities, such as pili torti and trichorrhexis nodosa. In patient 1, Trichoscopy showed significant variations of the hair shaft diameter, kinked hairs, and pili torti (Fig 1, C).5Rakowska A. Slowinska M. Kowalska-Oledzka E. Rudnicka L. Trichoscopy in genetic hair shaft abnormalities.J Dermatol Case Rep. 2008; 2: 14-20Crossref PubMed Google Scholar The latter appeared as flattened hair shafts that were ridged and twisted on their axis, resulting in the clinical appearance of "corkscrew hair" with spontaneous breakage.Follicular atrophoderma present at birth or developing early in life occurs in about 85% of patients with BDCS. The atrophic lesions in BDCS are restricted to the dorsal surfaces of the hands and are clinically obvious, whereas the pits in GGS are located on the palms or soles and may be easily overlooked. Dermatoscopy improves the diagnosis of palmar pits by revealing red dots that are arranged as parallel lines.3Kolm I. Puig S. Iranzo P. Malvehy J. Dermoscopy in Gorlin-Goltz syndrome.Dermatol Surg. 2006; 32: 847-851Crossref PubMed Scopus (24) Google ScholarThere are also differences with respect to the distribution of BCCs. Most patients with BCDS develop BCCs on the chronically sun-exposed areas of the head and neck, whereas in GGS they lack this association and occur more randomly. In both syndromes, they may simulate banal lesions, such as dermal nevi, skin tags, fibromas, or comedones. Dermatoscopy improves the early diagnosis of BCCs in these patients by exhibiting specific patterns, such as multiple blue-gray dots or globules, blue-gray blotches, and arborizing vessels.In conclusion, BDCS and GGS share the early onset of multiple BCCs, but each has distinctive associated clinical features. Dermatoscopy aids diagnosis by allowing for the improved recognition of BCCs and by facilitating visualization of hair shaft abnormalities in BDCS and palmoplantar pits in GGS. To the Editor: Gorlin–Goltz syndrome (GGS) and Bazex-Dupré-Christol syndrome (BDCS) are two genodermatoses associated with the development of multiple basal cell carcinomas (BCCs) at an early age.1Gorlin R.J. Goltz R.W. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome.N Engl J Med. 1960; 262: 908-912Crossref PubMed Scopus (680) Google Scholar, 2Bazex A. Dupré A. Christol B. Follicular atrophoderma, baso-cellular proliferations and hypotrichosis.Ann Dermatol Syphiligr (Paris). 1966; 93 ([in French]): 241-254PubMed Google Scholar The clinical diagnosis of GGS is based on the presence of multiple BCCs and palmoplantar pits in association with internal abnormalities and skeletal defects. In contrast, BDCS is characterized by multiple BCCs, congenital hypotrichosis, and follicular atrophoderma. We compared the clinical and dermatoscopic features that led to the correct diagnosis in two patients presenting with multiple BCCs. Case 1. A 16-year-old girl presented for evaluation of numerous nodules on her scalp and face that had developed during the previous 3 years. The physical examination revealed sparse hairs on her scalp and eyebrows, multiple atrophic "ice pick" depressions on the dorsal surfaces of both hands, and partially pigmented or nonpigmented papules on the face and frontal and temporal scalp (Fig 1). Dermatoscopy of the papules confirmed a clinical diagnosis of BCC by revealing arborizing vessels and, in the case of pigmented tumors, multiple blue gray blotches or globules (Fig 1, C). Trichoscopy revealed thinned hairs with a variable shaft diameter, kinked hairs, atrophic hairs, and pili torti (Fig 1, C). Based on the clinical triad of multiple BCCs, follicular atrophoderma, and hypotrichosis, a diagnosis of BDCS was made. Two large BCCs were excised from the scalp and submitted for histopathologic examination. Additional lesions were treated by cryotherapy, shave excision, or the application of imiquimod cream 5%. Her mother had follicular atrophoderma of the hands without other manifestations of BCDS. Her maternal grandfather had a history of BCC, premature hair loss, and similar atrophic lesions on his hands. Case 2. A 35-year-old man presented with a nonpigmented plaque on his right forehead. Dermatoscopic examination confirmed the clinical diagnosis of a superficial BCC; there were multiple small erosions, fine focused telangiectasias, and "spoke-wheel" areas. A complete skin examination with dermatoscopy revealed 10 small (3-5 mm), partially flesh colored and partially pigmented BCCs on his neck, abdomen, and trunk (Fig 2), and two additional superficial BCCs in a burn scar on the upper trunk. Two pigmented papules were excised from the neck and abdomen. A diagnosis of BCC was confirmed by histopathology. The patient reported previous surgical interventions for a jaw cyst, and a suspected diagnosis of GGS was confirmed by the presence of small pits on each palm (Fig 2, B). Dermatoscopy improved the visualization of these palmar pits by showing red dots arranged in a parallel fashion (Fig 2, C).3Kolm I. Puig S. Iranzo P. Malvehy J. Dermoscopy in Gorlin-Goltz syndrome.Dermatol Surg. 2006; 32: 847-851Crossref PubMed Scopus (24) Google Scholar The patient's family history was negative. Although both GGS and BDCS are characterized by multiple BCCs affecting younger patients, they have distinguishing clinical features. The hair abnormality in BDCS is a significant finding, because it may represent the initial presentation of the syndrome and may predate the onset of BCCs.4Moreau-Cabarrot A. Bonafé J.L. Hachich N. Jalby B.C. Aubert G. Rolland M. et al.Follicular atrophoderma, basal cell proliferation and hypotrichosis (Bazex-Dupré-Christol syndrome). A study in 2 families.Ann Dermatol Venereol. 1994; 121 ([in French]): 297-301PubMed Google Scholar Hair changes are reported in 85% of patients and include hair shaft abnormalities, such as pili torti and trichorrhexis nodosa. In patient 1, Trichoscopy showed significant variations of the hair shaft diameter, kinked hairs, and pili torti (Fig 1, C).5Rakowska A. Slowinska M. Kowalska-Oledzka E. Rudnicka L. Trichoscopy in genetic hair shaft abnormalities.J Dermatol Case Rep. 2008; 2: 14-20Crossref PubMed Google Scholar The latter appeared as flattened hair shafts that were ridged and twisted on their axis, resulting in the clinical appearance of "corkscrew hair" with spontaneous breakage. Follicular atrophoderma present at birth or developing early in life occurs in about 85% of patients with BDCS. The atrophic lesions in BDCS are restricted to the dorsal surfaces of the hands and are clinically obvious, whereas the pits in GGS are located on the palms or soles and may be easily overlooked. Dermatoscopy improves the diagnosis of palmar pits by revealing red dots that are arranged as parallel lines.3Kolm I. Puig S. Iranzo P. Malvehy J. Dermoscopy in Gorlin-Goltz syndrome.Dermatol Surg. 2006; 32: 847-851Crossref PubMed Scopus (24) Google Scholar There are also differences with respect to the distribution of BCCs. Most patients with BCDS develop BCCs on the chronically sun-exposed areas of the head and neck, whereas in GGS they lack this association and occur more randomly. In both syndromes, they may simulate banal lesions, such as dermal nevi, skin tags, fibromas, or comedones. Dermatoscopy improves the early diagnosis of BCCs in these patients by exhibiting specific patterns, such as multiple blue-gray dots or globules, blue-gray blotches, and arborizing vessels. In conclusion, BDCS and GGS share the early onset of multiple BCCs, but each has distinctive associated clinical features. Dermatoscopy aids diagnosis by allowing for the improved recognition of BCCs and by facilitating visualization of hair shaft abnormalities in BDCS and palmoplantar pits in GGS.