Medical genetics
Diffuse dermal melanocytosis in two patients with Sandhoff disease and mucopolysaccharidosis VI Mahmoud Reza Ashrafi1, MD, Alireza Tavasoli1, MD, Shadi Shiva1, MD, Nima Parvaneh2, MD, and Banafshe Tamizifar3, MD
1 Department of Pediatrics, Children’s Medical Center, Tehran, Iran, 2Pediatric Infectious Diseases Research Center, Tehran, Iran, and 3Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran
Abstract Dermal melanocytosis (DM) is described as the presence of ectopic melanocytes in the dermis and could be a normal cutaneous finding. However, diffuse DM or extensive Mongolian spots must be considered as an early sign of neurometabolic diseases, in particular lysosomal storage disorders. The presence of extensive DM should alert the physician to the presence of such disorders, making early diagnosis possible. We describe for the first time the presence of DM in two patients with Sandhoff disease and
Correspondence Alireza Tavasoli, MD Department of Pediatrics Children’s Medical Center Tehran University of Medical Sciences Tehran Iran E-mail: [email protected]
mucopolysaccharidosis VI.
Introduction Dermal melanocytosis (DM) is a histological term that clinically includes Mongolian spot, blue nevus, nevus of Ota, and nevus of Ito.1,2 Mongolian spots can be divided into two types according to their distribution. In the common type, the pigmented lesion covers the sacrococcygeal and buttock sites as a diffuse patch. In the extensive type, they extend to the back and shoulder and sometimes arms or legs as a diffuse patch3; therefore, Mongolian spots can rarely spread over extensive areas of the body. The association of diffuse DM or extensive Mongolian spots with lysosomal storage diseases (LySD) was first described by Weissbluth et al. in 19814 and since then, different cases of LySD associated with diffuse DM reported that they included GM1 gangliosidosis, mucopolysaccharidosis (MPS) I (Hurlur disease), MPS II (Hunter disease), alpha-mannosidosis, Niemann–Pick disease, and mucolipidosis II.1–3 We report for the first time two new cases of diffuse DM associated with Sandhoff disease and MPS VI in two separate patients. Case Presentation Case 1 736
An 18-month-old girl was referred for the evaluation of developmental regression. She was the second child of International Journal of Dermatology 2014, 53, 736–738
healthy non-consanguineous parents, born at term by elective Cesarean section after an uneventful pregnancy. Her birth weight and head circumference were 3 kg and 33 cm, respectively. Family history was unremarkable. After the first six months of normal development, she gradually lost her motor and cognitive milestones. No history of seizure was mentioned, but exaggerated startle response was reported. At her first visit in our hospital at 18 months of age, global developmental delay, including head lag, poor visual fixation and following, and absence of speech, was seen. Head circumference was 46 cm (
Diffuse dermal melanocytosis in two patients with Sandhoff disease and mucopolysaccharidosis VI Mahmoud Reza Ashrafi1, MD, Alireza Tavasoli1, MD, Shadi Shiva1, MD, Nima Parvaneh2, MD, and Banafshe Tamizifar3, MD
1 Department of Pediatrics, Children’s Medical Center, Tehran, Iran, 2Pediatric Infectious Diseases Research Center, Tehran, Iran, and 3Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran
Abstract Dermal melanocytosis (DM) is described as the presence of ectopic melanocytes in the dermis and could be a normal cutaneous finding. However, diffuse DM or extensive Mongolian spots must be considered as an early sign of neurometabolic diseases, in particular lysosomal storage disorders. The presence of extensive DM should alert the physician to the presence of such disorders, making early diagnosis possible. We describe for the first time the presence of DM in two patients with Sandhoff disease and
Correspondence Alireza Tavasoli, MD Department of Pediatrics Children’s Medical Center Tehran University of Medical Sciences Tehran Iran E-mail: [email protected]
mucopolysaccharidosis VI.
Introduction Dermal melanocytosis (DM) is a histological term that clinically includes Mongolian spot, blue nevus, nevus of Ota, and nevus of Ito.1,2 Mongolian spots can be divided into two types according to their distribution. In the common type, the pigmented lesion covers the sacrococcygeal and buttock sites as a diffuse patch. In the extensive type, they extend to the back and shoulder and sometimes arms or legs as a diffuse patch3; therefore, Mongolian spots can rarely spread over extensive areas of the body. The association of diffuse DM or extensive Mongolian spots with lysosomal storage diseases (LySD) was first described by Weissbluth et al. in 19814 and since then, different cases of LySD associated with diffuse DM reported that they included GM1 gangliosidosis, mucopolysaccharidosis (MPS) I (Hurlur disease), MPS II (Hunter disease), alpha-mannosidosis, Niemann–Pick disease, and mucolipidosis II.1–3 We report for the first time two new cases of diffuse DM associated with Sandhoff disease and MPS VI in two separate patients. Case Presentation Case 1 736
An 18-month-old girl was referred for the evaluation of developmental regression. She was the second child of International Journal of Dermatology 2014, 53, 736–738
healthy non-consanguineous parents, born at term by elective Cesarean section after an uneventful pregnancy. Her birth weight and head circumference were 3 kg and 33 cm, respectively. Family history was unremarkable. After the first six months of normal development, she gradually lost her motor and cognitive milestones. No history of seizure was mentioned, but exaggerated startle response was reported. At her first visit in our hospital at 18 months of age, global developmental delay, including head lag, poor visual fixation and following, and absence of speech, was seen. Head circumference was 46 cm (
