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An unusual leukodermic variant of Darier's disease in 3 siblings
P1405
P1407
Proteus syndrome presenting as pain in the median nerve distribution Lynn Teo, MBBS, Changi General Hospital, Singapore, AA, Singapore; YongKwang Tay, MBBS, Changi General Hospital, Singapore, AA, Singapore Proteus syndrome is a rare complex hamartomatous disorder defined by malformations and progressive overgrowth of various tissues. The key features are body asymmetry with limb overgrowth that plateaus after adolescence, linear verrucous epidermal nevi and vascular malformations, areas of dermal atrophy with prominent venous patterns and palmoplantar cerebriform hyperplasia. We report a case of a 15-year-old boy with epidermal nevi and port-wine stain over the right arm with macrodactyly of the right hand presenting with distressing pain in the right hand radiating to the right forearm. The pain was sharp and constant and had been present for 1 week. Clinically there was paraesthesiae in the median nerve distribution. Magnetic resonance imaging of the right hand did not show median nerve compression. The acute episode resolved with simple analgesics. Complications involving the median nerve in Proteus syndrome has not been widely reported. McCullagh et al have described hypertrophy of the median nerve in Proteus syndrome that resulted in nerve compression and pain. We discuss the various causes for pain in a hypertrophic limb in these patients. At a later stage, ablative carbon dioxide laser surgery to the epidermal nevi was attempted and this resulted in good cosmetic effect.
GorlineGoltz syndrome Ana Paula Almeida, MD, Policlinica Geral do Rio de Janeiro, Rio de Janeiro, Brazil; Livia Cristina Pino, MD, Policlinica Geral do Rio de Janeiro, Rio de Janeiro, Brazil; Vinicius Empinotti, MD, Policlinica Geral do Rio de Janeiro, Rio de Janeiro, Brazil; Omar Lupi, MD, PhD, Policlinica Geral do Rio de Janeiro, Rio de Janeiro, Brazil
Commercial support: None identified.
Introduction: Basal cell nevus syndrome, or GorlineGoltz syndrome, is a genetic autosomal dominant inheritance disease with variable expressivity and penetrance, being about 60% sporadic. It is rare (1:57000 cases) and characterized by basal cell carcinoma (BCC), palmo-plantar pits, skeletal changes, and other symptoms. Case report: A 49-year-old Brazilian male with Fitzpatrick skin type IV, is single, a painter, and was born and lives in Rio de Janeiro, Brazil. About 8 years ago, he presented a blooding sign on his face and back. Twenty-eight 28 lesions compatible with BCC were observed on the face, neck, members, trunk, and back; palmar and plantar pits, epidermic cyst on occipital region and 3 scars on face and right flank (first skin tumor when patient was 25 years old). Cephalic body disproportion, strait shoulder, nasal pons dilated, kyphoscoliosis, palate arcuation, calcification of the falx carebri, jaw cyst, and cervical ribs fusion were also noted. Discussion: Basal cell nevus syndrome described by Jarisch and White in 1894, wasn’t recognized before Gorlin and Goltz delineated it in 1960. The responsible mutation is on 9 chromosome (9q22.3-q31) and involve a human homolog gene to the Drosophila’s gene segmentePATCHED, with probably tumor suppressant function. It’s rare to find multiple BCCs on dark-skinned patients. We mention a phototype IV case with basal cell nevus syndrome. The syndrome diagnosis is realized by the presence of 2 major criteria or 1 major criterion and a first relative affected or, still, the presence of 2 minor criteria and a first relative affected. The major features are multiple BCCs, a BCC before the age of 20, jaw odontogenic cyst, 3 or more palmar and plantar pitting, calcification of the falx carebri and a positive family history. The minor features are skeletal abnormalities, macrocephaly, cardiac or ovarian fibroma, meduloblastoma, lymphatic mesenteric cyst, and other congenital malformations. We established the diagnosis by multiple BCCs associated with palmar and plantar pitting, calcification of the falx cerebri, jaw cyst (4 major criteria) and other smaller findings. Commercial support: None identified.
P1406 An unusual leukodermic variant of Darier’s disease in 3 siblings Alyson Levine, MD, SUNY Downstate, Brooklyn, NY, Sharon Glick, MD, SUNY Downstate, Brooklyn, NY We report a case of 3 siblings, presenting with an unusual leukodermic variant of Darier’s disease. Three healthy siblings, aged 16, 14, and 12 years, respectively, were brought to the dermatology clinic by their foster mother with a common chief complaint of a malodorous, itchy scalp. All 3 patients had suffered for several years with this problem and, over the same time period, had developed a nearly identical eruption to that of her sisters. Each patient had brown papules on the lateral aspects of her neck and collar region with white macules over her neck, collar, and upper chest region. The patients reported that the white macules were independent from the brown papules and had been preceded only by normal appearing skin. Other family members, including their biological mother and younger brother reportedly had a similar problem. On physical examination, each of the three patients was found to have guttate hypopigmented macules distributed over her neck, collar and chest region. The macules ranged from 2 mm to 5 mm in diameter and had a random distribution. In addition, each of the three patients exhibited the characteristic features of Darier’s disease, including hyperkeratotic papules, pitting of the palms and characteristic nail changes. A punch biopsy of a hypopigmented macule in the 16-year-old patient’s right collar region revealed an irregular distribution of melanin pigment within the basal keratinocytes, with decreased melanin in the central zone. Higher in the epidermis, acantholytic dyskeratosis was seen. A punch biopsy of a hyperkeratotic papule, in the 14-year-old patient was also done. This biopsy demonstrated acantholytic dyskeratosis consistent with Darier’s disease. Guttate leukoderma is considered an unusual feature of Darier’s disease, with fewer than 20 cases described in the literature since its first description in 1965. We present the proposed pathogenesis and a review of the literature of the leukodermic variant of Darier’s disease.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder manifested by telangiectases of the skin and mucous membranes and arteriovenous malformations (AVMs). Verrucous hemangioma is a rare, congenital vascular malformation that presents as circumscribed, keratotic papules or plaques or as lesions arranged in a linear or serpiginous configuration. We present a patient with HHT associated with a verrucous hemangioma. To our knowledge, this is the first report of a patient with concomitant verrucous hemangioma and HHT. Three gene mutations known to occur in HHT include endoglin (ENG), activinlike receptor kinase (ALK-1), and SMAD4, all genes of which are involved in the signaling of transforming growth factor (TGF-b). It is a mutation in ENG that is most often associated with pulmonary AVMs seen in patients with HHT. The pathophysiology of verrucous hemangioma is not known. Although both conditions involve vascular malformations, it remains to be determined what if any link can be made between the two.
Commercial support: None identified.
Commercial support: None identified.
FEBRUARY 2007
P1408 Verrucous hemangioma in a patient with hereditary hemorrhagic telangiectasia Kimberly Cayce, MD, Division of Dermatology, Brody School of Medicine, East Carolina University, Greenville, NC, United States; Christopher Scott, MD, Division of Dermatology, Brody School of Medicine, East Carolina University, Greenville, NC, United States; Charles Phillips, MD, Division of Dermatology, Brody School of Medicine, East Carolina University, Greenville, NC, United States
J AM ACAD DERMATOL
AB109
P1407
Proteus syndrome presenting as pain in the median nerve distribution Lynn Teo, MBBS, Changi General Hospital, Singapore, AA, Singapore; YongKwang Tay, MBBS, Changi General Hospital, Singapore, AA, Singapore Proteus syndrome is a rare complex hamartomatous disorder defined by malformations and progressive overgrowth of various tissues. The key features are body asymmetry with limb overgrowth that plateaus after adolescence, linear verrucous epidermal nevi and vascular malformations, areas of dermal atrophy with prominent venous patterns and palmoplantar cerebriform hyperplasia. We report a case of a 15-year-old boy with epidermal nevi and port-wine stain over the right arm with macrodactyly of the right hand presenting with distressing pain in the right hand radiating to the right forearm. The pain was sharp and constant and had been present for 1 week. Clinically there was paraesthesiae in the median nerve distribution. Magnetic resonance imaging of the right hand did not show median nerve compression. The acute episode resolved with simple analgesics. Complications involving the median nerve in Proteus syndrome has not been widely reported. McCullagh et al have described hypertrophy of the median nerve in Proteus syndrome that resulted in nerve compression and pain. We discuss the various causes for pain in a hypertrophic limb in these patients. At a later stage, ablative carbon dioxide laser surgery to the epidermal nevi was attempted and this resulted in good cosmetic effect.
GorlineGoltz syndrome Ana Paula Almeida, MD, Policlinica Geral do Rio de Janeiro, Rio de Janeiro, Brazil; Livia Cristina Pino, MD, Policlinica Geral do Rio de Janeiro, Rio de Janeiro, Brazil; Vinicius Empinotti, MD, Policlinica Geral do Rio de Janeiro, Rio de Janeiro, Brazil; Omar Lupi, MD, PhD, Policlinica Geral do Rio de Janeiro, Rio de Janeiro, Brazil
Commercial support: None identified.
Introduction: Basal cell nevus syndrome, or GorlineGoltz syndrome, is a genetic autosomal dominant inheritance disease with variable expressivity and penetrance, being about 60% sporadic. It is rare (1:57000 cases) and characterized by basal cell carcinoma (BCC), palmo-plantar pits, skeletal changes, and other symptoms. Case report: A 49-year-old Brazilian male with Fitzpatrick skin type IV, is single, a painter, and was born and lives in Rio de Janeiro, Brazil. About 8 years ago, he presented a blooding sign on his face and back. Twenty-eight 28 lesions compatible with BCC were observed on the face, neck, members, trunk, and back; palmar and plantar pits, epidermic cyst on occipital region and 3 scars on face and right flank (first skin tumor when patient was 25 years old). Cephalic body disproportion, strait shoulder, nasal pons dilated, kyphoscoliosis, palate arcuation, calcification of the falx carebri, jaw cyst, and cervical ribs fusion were also noted. Discussion: Basal cell nevus syndrome described by Jarisch and White in 1894, wasn’t recognized before Gorlin and Goltz delineated it in 1960. The responsible mutation is on 9 chromosome (9q22.3-q31) and involve a human homolog gene to the Drosophila’s gene segmentePATCHED, with probably tumor suppressant function. It’s rare to find multiple BCCs on dark-skinned patients. We mention a phototype IV case with basal cell nevus syndrome. The syndrome diagnosis is realized by the presence of 2 major criteria or 1 major criterion and a first relative affected or, still, the presence of 2 minor criteria and a first relative affected. The major features are multiple BCCs, a BCC before the age of 20, jaw odontogenic cyst, 3 or more palmar and plantar pitting, calcification of the falx carebri and a positive family history. The minor features are skeletal abnormalities, macrocephaly, cardiac or ovarian fibroma, meduloblastoma, lymphatic mesenteric cyst, and other congenital malformations. We established the diagnosis by multiple BCCs associated with palmar and plantar pitting, calcification of the falx cerebri, jaw cyst (4 major criteria) and other smaller findings. Commercial support: None identified.
P1406 An unusual leukodermic variant of Darier’s disease in 3 siblings Alyson Levine, MD, SUNY Downstate, Brooklyn, NY, Sharon Glick, MD, SUNY Downstate, Brooklyn, NY We report a case of 3 siblings, presenting with an unusual leukodermic variant of Darier’s disease. Three healthy siblings, aged 16, 14, and 12 years, respectively, were brought to the dermatology clinic by their foster mother with a common chief complaint of a malodorous, itchy scalp. All 3 patients had suffered for several years with this problem and, over the same time period, had developed a nearly identical eruption to that of her sisters. Each patient had brown papules on the lateral aspects of her neck and collar region with white macules over her neck, collar, and upper chest region. The patients reported that the white macules were independent from the brown papules and had been preceded only by normal appearing skin. Other family members, including their biological mother and younger brother reportedly had a similar problem. On physical examination, each of the three patients was found to have guttate hypopigmented macules distributed over her neck, collar and chest region. The macules ranged from 2 mm to 5 mm in diameter and had a random distribution. In addition, each of the three patients exhibited the characteristic features of Darier’s disease, including hyperkeratotic papules, pitting of the palms and characteristic nail changes. A punch biopsy of a hypopigmented macule in the 16-year-old patient’s right collar region revealed an irregular distribution of melanin pigment within the basal keratinocytes, with decreased melanin in the central zone. Higher in the epidermis, acantholytic dyskeratosis was seen. A punch biopsy of a hyperkeratotic papule, in the 14-year-old patient was also done. This biopsy demonstrated acantholytic dyskeratosis consistent with Darier’s disease. Guttate leukoderma is considered an unusual feature of Darier’s disease, with fewer than 20 cases described in the literature since its first description in 1965. We present the proposed pathogenesis and a review of the literature of the leukodermic variant of Darier’s disease.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder manifested by telangiectases of the skin and mucous membranes and arteriovenous malformations (AVMs). Verrucous hemangioma is a rare, congenital vascular malformation that presents as circumscribed, keratotic papules or plaques or as lesions arranged in a linear or serpiginous configuration. We present a patient with HHT associated with a verrucous hemangioma. To our knowledge, this is the first report of a patient with concomitant verrucous hemangioma and HHT. Three gene mutations known to occur in HHT include endoglin (ENG), activinlike receptor kinase (ALK-1), and SMAD4, all genes of which are involved in the signaling of transforming growth factor (TGF-b). It is a mutation in ENG that is most often associated with pulmonary AVMs seen in patients with HHT. The pathophysiology of verrucous hemangioma is not known. Although both conditions involve vascular malformations, it remains to be determined what if any link can be made between the two.
Commercial support: None identified.
Commercial support: None identified.
FEBRUARY 2007
P1408 Verrucous hemangioma in a patient with hereditary hemorrhagic telangiectasia Kimberly Cayce, MD, Division of Dermatology, Brody School of Medicine, East Carolina University, Greenville, NC, United States; Christopher Scott, MD, Division of Dermatology, Brody School of Medicine, East Carolina University, Greenville, NC, United States; Charles Phillips, MD, Division of Dermatology, Brody School of Medicine, East Carolina University, Greenville, NC, United States
J AM ACAD DERMATOL
AB109