- Email: [email protected]
Microphthalmia, dermal aplasia and sclerocornea (MiDAS) syndrome
3537
3608
Fibrous cephalic plaque: A presenting cutaneous manifestation of tuberous sclerosis complex Thomas Lee, MD, George Washington University, Washington, DC, United States; Martin Horn, MD, Inova Fair Oaks Hospital, Fairfax, VA, United States; Caroline Perez, University of Nevada School of Medicine, Reno, NV, United States; Jeffrey Harvell, MD, Bethesda Dermatopathology Laboratory, Bethesda, MD, United States Tuberous sclerosis complex (TSC) is a disease that affects multiple organs secondary to mutations in the TSC1 and TSC2 genes which code for the hamartin-tuberin protein complex, a tumor suppressor. Classic cutaneous markers of TSC include adenoma sebaceum, white macules, shagreen patch, and periungual fibromas. Some patients may present with a fibrous cephalic plaque, a fibromatous, soft, skincolored or brown plaque that typically appears on the forehead or scalp. It is considered to be the most specific skin finding in TSC. A 35-year-old African female presented with a brown, ovoid, fibrotic plaque on the forehead and only a few flesh colored, shiny papules in the infra alar area. Coincidentally, she was being followed by urology for renal angiomyolipomas. Exam was negative for periungual fibromas, ash leaf macules, or dental pits. Histological examination of the forehead and infra alar skin growths both revealed superficial dermal fibrosis with scattered interstitial plump multinucleated cells, increased numbers of mast cells, increased numbers of small blood vessels highlighted with CD31, and diminished elastic fibers. A clinical diagnosis of TSC was made and the patient was referred for genetic testing and counseling. In the absence of more prevalent and classic cutaneous markers of TSC, clinicians should be vigilant for the presence of the fibrous cephalic plaque when considering this diagnosis.
Microphthalmia, dermal aplasia and sclerocornea (MiDAS) syndrome Fanny-Emmanuelle Bernier, DMD, Sainte-Justine Hospital, Montreal, Quebec, Canada; Afshin Hatami, DMD, Sainte-Justine Hospital, Montreal, Quebec, Canada Introduction: In pediatric dermatology, congenital linear lesions are not uncommon. It can be an isolated finding, or an important piece of information when a genodermatosis is suspected.
Commercial support: None identified.
Material and methods: The patient is a 6-day-old girl. Her parents deny any skin disease or inbreeding in the family. She was born prematurely at 36 weeks’ of gestational age. A midwife delivered her at home, but she was rushed to the hospital shortly after her birth because of breathing problems. She was diagnosed with a diaphragmatic hernia. A complete workup revealed additional anomalies such as agenesis of the corpus callosum, persistent ductus arteriosus, atrial and ventricular septal defects, malrotation, microphthalmia and sclerocornea. A dermatology consultation was requested to evaluate streaks present on the patient’s face, which was initially suspected to be caused by the bag-valve mask. However, the lesions were linear atrophy of the dermis along the nasolabial folds and horizontally under her chin. The rest of the skin examination was unremarkable. The differential diagnoses include but are not limited to incontinentia pigmenti (stage 4), morphea, lichen sclerosus and focal dermal hypoplasia (Goltz). Results: Considering the constellation of symptoms, a genetic study was requested. A de novo segmental monosomy in the locus Xp22.33p22.2 (HCCS gene) was found, which can explain the clinical picture. This syndrome is called microphthalmia, dermal aplasia and sclerocornea (MiDAS) or microphthalmia with linear skin defect (MLS). First described in the early 1990s, there are now about 64 reported cases. Discussion: This condition is transmitted in an autosomal dominant fashion. It is lethal in boys and carries a wide phenotypic variability. In the literature, a mutation is described in one of these three genes: HCCS, COX7B and NDUFB11. They encode proteins involved in the mitochondrial respiratory chain. Conclusion: Blaschko lines are believed to trace the migration pathway of embryonic cells. Skin mosaicism is expressed as lesions along those lines and the presentation can vary depending on the cell type and the timing of mosaicism. In this case, impairment of neural crest cells explains the particular distribution. Because of germline mosaicism, the risk of having another affected child is estimated at 1%. In a future pregnancy, prenatal diagnosis will be offered to the parents. Commercial support: None identified.
3965 Multiple basal cell carcinomas on the scalp of an African American nevoid basal cell carcinoma syndrome patient Jacey Guthrie, MD, University of Arkansas for Medical Sciences, Little Rock, AR, United States; Daniel Walker, MD, University of Arkansas for Medical Sciences, Little Rock, AR, United States; Ling Gao, MD, PhD, University of Arkansas for Medical Sciences, Little Rock, AR, United States
3319 Lipoid proteinosis Jennifer Hand, MD, Mayo Clinic, Rochester, MN, United States; Comfere Nneka, MD, Mayo Clinic, Rochester, MN, United States A 21-year-old Somali male presented to dermatology clinic for evaluation of skin lesions which had been progressing since childhood. He termed his skin ‘‘sensitive and weak’’ with asymptomatic blister-like lesions which then broke open to form scars. On further questioning, he endorsed some thickening of his tongue and lips and a hoarse voice which was present since his teenage years. Furthermore, the patient had new onset seizures which began four years prior. Recent MRI and CT demonstrated bilateral symmetric calcification in the anteromesial temporal lobes. Dermatologic exam revealed several scattered atrophic patches involving his shoulders, axillary vaults, and groin. He was also noted to have punctate scars on his knees. There was some diffuse thickening noted of his upper and lower mucosal lips and tongue. Histopathology from an atrophic patch in his left axillary vault revealed minimal dermal perivascular lymphocytic inflammation and mild dermal sclerosis with eosinophilic hyaline material noted surrounding eccrine glandular structures. Period acideSchiff diastase and type IV collagen stains highlighted this eosinophilic hyaline material. Biopsy of the lower lip mucosa had similar findings. Based on history, clinical exam, imaging, and histopathology, the diagnosis of lipoid proteinosis was rendered. Lipoid proteinosis is a rare, autosomal recessive disorder with defect in the human ECM1 protein, and is characterized by deposition of a hyaline material in the skin, mucous membranes of the upper aerodigestive tract and internal organs. Dermatologic manifestations include the characteristic yellow, beaded papules at the eyelid margin, which can be quite subtle. Waxy, yellow papules and nodules which can coalesce to a generalized skin thickening can also be seen. The skin can form blisters from minor trauma and friction often leading to scarring. Extracutaneous manifestations include hoarseness, speech impairment, and respiratory symptoms. Calcification of the temporal lobes or hippocampi can lead to epilepsy and neuropsychiatric abnormalities. This case presents a very rare genodermatosis and its sometimes very subtle findings highlighting the importance of a careful clinical exam and history. Commercial support: None identified.
AB128
J AM ACAD DERMATOL
Background: Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is an autosomal dominant disorder mainly caused by a loss of function mutation in PTCH1 gene, resulting in hyperactivated sonic hedgehog signaling. It results in a wide variety of abnormalities, as well as a predisposition to basal cell carcinomas (BCC). Compared to white patients with NBCCS, African American patients have a lower propensity of developing BCCs, and very few of those reported had more than 5 lesions. Case report: A 48-year-old African American woman with no personal or family history of skin cancer presented to dermatology clinic with hair loss. On physical exam, the patient was noted to have multiple hyperpigmented plaques on the scalp and two pits on the plantar surface of the left foot. Pathology confirmed superficial basal cell carcinoma on a total of 6 lesions on the scalp during the subsequent seven months. The patient’s presentation was suspicious for NBCCS and further work-up of skull and mandible radiographs revealed no abnormalities. Although she did not meet the clinical criteria for NBCCS, genetic testing detected a pathogenic mutation at the p.R945* (C.2833C [ T) in the PTCH1 gene. The diagnosis was confirmed and her daughter was subjected for genetic testing. The patient is currently followed in the clinic on a regular basis. Discussion: NBCCS is predominant in the white population; however, there have been multiple reports of the syndrome in the African American population. In a study by Kimonis et al, it was found that African Americans with NBCCS have a 20 % chance of developing BCCs by age 21.5 and a 40% chance by age 35 as opposed to whites with a 50% and 90% chance, respectively. Out of the 105 patients reviewed in this study, five of the thirteen African Americans developed BCCs. Only one of these patients with prior radiation exposure developed multiple BCCs. In a study by Kulkame et al, eleven African American patients were identified with NBCCS and BCC development. Out of these 11 patients, only three were described with multiple BCCs ([5). Out of the African American patients identified with multiple BCCs, our patient is the only one who developed all lesions in one anatomic location. It is important to consider this diagnosis when multiple hyperpigmented plaques are found on physical exam in African Americans even when other diagnostic criteria are not evident. Commercial support: None identified.
MAY 2016
3608
Fibrous cephalic plaque: A presenting cutaneous manifestation of tuberous sclerosis complex Thomas Lee, MD, George Washington University, Washington, DC, United States; Martin Horn, MD, Inova Fair Oaks Hospital, Fairfax, VA, United States; Caroline Perez, University of Nevada School of Medicine, Reno, NV, United States; Jeffrey Harvell, MD, Bethesda Dermatopathology Laboratory, Bethesda, MD, United States Tuberous sclerosis complex (TSC) is a disease that affects multiple organs secondary to mutations in the TSC1 and TSC2 genes which code for the hamartin-tuberin protein complex, a tumor suppressor. Classic cutaneous markers of TSC include adenoma sebaceum, white macules, shagreen patch, and periungual fibromas. Some patients may present with a fibrous cephalic plaque, a fibromatous, soft, skincolored or brown plaque that typically appears on the forehead or scalp. It is considered to be the most specific skin finding in TSC. A 35-year-old African female presented with a brown, ovoid, fibrotic plaque on the forehead and only a few flesh colored, shiny papules in the infra alar area. Coincidentally, she was being followed by urology for renal angiomyolipomas. Exam was negative for periungual fibromas, ash leaf macules, or dental pits. Histological examination of the forehead and infra alar skin growths both revealed superficial dermal fibrosis with scattered interstitial plump multinucleated cells, increased numbers of mast cells, increased numbers of small blood vessels highlighted with CD31, and diminished elastic fibers. A clinical diagnosis of TSC was made and the patient was referred for genetic testing and counseling. In the absence of more prevalent and classic cutaneous markers of TSC, clinicians should be vigilant for the presence of the fibrous cephalic plaque when considering this diagnosis.
Microphthalmia, dermal aplasia and sclerocornea (MiDAS) syndrome Fanny-Emmanuelle Bernier, DMD, Sainte-Justine Hospital, Montreal, Quebec, Canada; Afshin Hatami, DMD, Sainte-Justine Hospital, Montreal, Quebec, Canada Introduction: In pediatric dermatology, congenital linear lesions are not uncommon. It can be an isolated finding, or an important piece of information when a genodermatosis is suspected.
Commercial support: None identified.
Material and methods: The patient is a 6-day-old girl. Her parents deny any skin disease or inbreeding in the family. She was born prematurely at 36 weeks’ of gestational age. A midwife delivered her at home, but she was rushed to the hospital shortly after her birth because of breathing problems. She was diagnosed with a diaphragmatic hernia. A complete workup revealed additional anomalies such as agenesis of the corpus callosum, persistent ductus arteriosus, atrial and ventricular septal defects, malrotation, microphthalmia and sclerocornea. A dermatology consultation was requested to evaluate streaks present on the patient’s face, which was initially suspected to be caused by the bag-valve mask. However, the lesions were linear atrophy of the dermis along the nasolabial folds and horizontally under her chin. The rest of the skin examination was unremarkable. The differential diagnoses include but are not limited to incontinentia pigmenti (stage 4), morphea, lichen sclerosus and focal dermal hypoplasia (Goltz). Results: Considering the constellation of symptoms, a genetic study was requested. A de novo segmental monosomy in the locus Xp22.33p22.2 (HCCS gene) was found, which can explain the clinical picture. This syndrome is called microphthalmia, dermal aplasia and sclerocornea (MiDAS) or microphthalmia with linear skin defect (MLS). First described in the early 1990s, there are now about 64 reported cases. Discussion: This condition is transmitted in an autosomal dominant fashion. It is lethal in boys and carries a wide phenotypic variability. In the literature, a mutation is described in one of these three genes: HCCS, COX7B and NDUFB11. They encode proteins involved in the mitochondrial respiratory chain. Conclusion: Blaschko lines are believed to trace the migration pathway of embryonic cells. Skin mosaicism is expressed as lesions along those lines and the presentation can vary depending on the cell type and the timing of mosaicism. In this case, impairment of neural crest cells explains the particular distribution. Because of germline mosaicism, the risk of having another affected child is estimated at 1%. In a future pregnancy, prenatal diagnosis will be offered to the parents. Commercial support: None identified.
3965 Multiple basal cell carcinomas on the scalp of an African American nevoid basal cell carcinoma syndrome patient Jacey Guthrie, MD, University of Arkansas for Medical Sciences, Little Rock, AR, United States; Daniel Walker, MD, University of Arkansas for Medical Sciences, Little Rock, AR, United States; Ling Gao, MD, PhD, University of Arkansas for Medical Sciences, Little Rock, AR, United States
3319 Lipoid proteinosis Jennifer Hand, MD, Mayo Clinic, Rochester, MN, United States; Comfere Nneka, MD, Mayo Clinic, Rochester, MN, United States A 21-year-old Somali male presented to dermatology clinic for evaluation of skin lesions which had been progressing since childhood. He termed his skin ‘‘sensitive and weak’’ with asymptomatic blister-like lesions which then broke open to form scars. On further questioning, he endorsed some thickening of his tongue and lips and a hoarse voice which was present since his teenage years. Furthermore, the patient had new onset seizures which began four years prior. Recent MRI and CT demonstrated bilateral symmetric calcification in the anteromesial temporal lobes. Dermatologic exam revealed several scattered atrophic patches involving his shoulders, axillary vaults, and groin. He was also noted to have punctate scars on his knees. There was some diffuse thickening noted of his upper and lower mucosal lips and tongue. Histopathology from an atrophic patch in his left axillary vault revealed minimal dermal perivascular lymphocytic inflammation and mild dermal sclerosis with eosinophilic hyaline material noted surrounding eccrine glandular structures. Period acideSchiff diastase and type IV collagen stains highlighted this eosinophilic hyaline material. Biopsy of the lower lip mucosa had similar findings. Based on history, clinical exam, imaging, and histopathology, the diagnosis of lipoid proteinosis was rendered. Lipoid proteinosis is a rare, autosomal recessive disorder with defect in the human ECM1 protein, and is characterized by deposition of a hyaline material in the skin, mucous membranes of the upper aerodigestive tract and internal organs. Dermatologic manifestations include the characteristic yellow, beaded papules at the eyelid margin, which can be quite subtle. Waxy, yellow papules and nodules which can coalesce to a generalized skin thickening can also be seen. The skin can form blisters from minor trauma and friction often leading to scarring. Extracutaneous manifestations include hoarseness, speech impairment, and respiratory symptoms. Calcification of the temporal lobes or hippocampi can lead to epilepsy and neuropsychiatric abnormalities. This case presents a very rare genodermatosis and its sometimes very subtle findings highlighting the importance of a careful clinical exam and history. Commercial support: None identified.
AB128
J AM ACAD DERMATOL
Background: Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is an autosomal dominant disorder mainly caused by a loss of function mutation in PTCH1 gene, resulting in hyperactivated sonic hedgehog signaling. It results in a wide variety of abnormalities, as well as a predisposition to basal cell carcinomas (BCC). Compared to white patients with NBCCS, African American patients have a lower propensity of developing BCCs, and very few of those reported had more than 5 lesions. Case report: A 48-year-old African American woman with no personal or family history of skin cancer presented to dermatology clinic with hair loss. On physical exam, the patient was noted to have multiple hyperpigmented plaques on the scalp and two pits on the plantar surface of the left foot. Pathology confirmed superficial basal cell carcinoma on a total of 6 lesions on the scalp during the subsequent seven months. The patient’s presentation was suspicious for NBCCS and further work-up of skull and mandible radiographs revealed no abnormalities. Although she did not meet the clinical criteria for NBCCS, genetic testing detected a pathogenic mutation at the p.R945* (C.2833C [ T) in the PTCH1 gene. The diagnosis was confirmed and her daughter was subjected for genetic testing. The patient is currently followed in the clinic on a regular basis. Discussion: NBCCS is predominant in the white population; however, there have been multiple reports of the syndrome in the African American population. In a study by Kimonis et al, it was found that African Americans with NBCCS have a 20 % chance of developing BCCs by age 21.5 and a 40% chance by age 35 as opposed to whites with a 50% and 90% chance, respectively. Out of the 105 patients reviewed in this study, five of the thirteen African Americans developed BCCs. Only one of these patients with prior radiation exposure developed multiple BCCs. In a study by Kulkame et al, eleven African American patients were identified with NBCCS and BCC development. Out of these 11 patients, only three were described with multiple BCCs ([5). Out of the African American patients identified with multiple BCCs, our patient is the only one who developed all lesions in one anatomic location. It is important to consider this diagnosis when multiple hyperpigmented plaques are found on physical exam in African Americans even when other diagnostic criteria are not evident. Commercial support: None identified.
MAY 2016