Genomes and Genes
cafe au lait spots
Summary: Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).
- Davies J, Barton J, Gregory J, Mills C. Infantile McCune-Albright syndrome. Pediatr Dermatol. 2001;18:504-6 pubmed..Following the clinical diagnosis of McCune-Albright syndrome, he was subsequently shown to have hypercortisolism and hyperthyroidism. ..
- Perkins R, Hoang Xuan M. The Russell-Silver syndrome: a case report and brief review of the literature. Pediatr Dermatol. 2002;19:546-9 pubmed..We present the first instances of a large, unilateral, achromic patch as an additional cutaneous manifestation of the Russell-Silver syndrome. ..
- Pallotta R, Saponari A. Hyperpigmented patch associated to heterochromia iridis. Pediatr Dermatol. 2005;22:572; author reply 572 pubmed
- Kakkar S, Mendiratta V, Sharma N, Aneja S, Harjai B. Cutaneous manifestations of seizure disorder in children--a study of 100 seizure patients. Pediatr Dermatol. 2007;24:579-81 pubmed
- Popescu E, Popa C, Mogoş V, Niculescu D, Dănilă V, Balan M, et al. [Brown tumors of upper and lower jaws in Recklinghausen neurofibromatosis. A case report]. Rev Med Chir Soc Med Nat Iasi. 2007;111:238-43 pubmedWe report the case of a 41-year-old patient who presented multiple cafe au lait spots and exophytic tumors of the upper jaw, causing facial asymmetry and masticatory impairment...
- Ramanjam V, Adnams C, Ndondo A, Fieggen G, Fieggen K, Wilmshurst J. Clinical phenotype of South African children with neurofibromatosis 1. J Child Neurol. 2006;21:63-70 pubmed..The combined clinic has resulted in a holistic approach to patient care, early detection of pathology, consistent therapies across the specialties, and better patient attendance and compliance. (J Child Neurol 2006;21:63-70). ..
- Palmer C, Szudek J, Joe H, Riccardi V, Friedman J. Analysis of neurofibromatosis 1 (NF1) lesions by body segment. Am J Med Genet A. 2004;125A:157-61 pubmed..57). We conclude that the development of café-au-lait spots, cutaneous neurofibromas, and plexiform neurofibromas are spatially independent in NF1 patients but that the development of all three lesions is influenced by familial factors. ..
- Chen M, Chen K, Hou J, Lee C, Huang J. Coexistence of autosomal dominant polycystic kidney disease and neurofibromatosis: report of a family. Am J Nephrol. 2002;22:376-80 pubmed..It is possible that a mutated neurofibromatosis gene developed in the ADPKD mother with subsequent inherence of both ADPKD and NF genes in her 2 sons. ..
- Tibussek D, Hübsch S, Berger K, Schaper J, Rosenbaum T, Mayatepek E. Infantile onset neurofibromatosis type 2 presenting with peripheral facial palsy, skin patches, retinal hamartoma and foot drop. Klin Padiatr. 2009;221:247-50 pubmed publisher..However, it is now known that many NF2 patients present clinical signs and symptoms in early childhood. We here report an illustrative case of a male adolescent with an infantile onset clinical symptomatology...
- Thiel C, Wilken M, Zenker M, Sticht H, Fahsold R, Gusek Schneider G, et al. Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. Am J Med Genet A. 2009;149A:1263-7 pubmed publisher..In contrast to previous findings, we speculate that absence of cutaneous neurofibromas is not solely associated with the recurrent 3-bp in-frame deletion in exon 17...
- Zhou J, Sun L, Cui B, Song H, Li X, Ning G, et al. Genetic diagnosis of multiple affected tissues in a patient with McCune-Albright syndrome. Endocrine. 2007;31:212-7 pubmed..An activating mutation of the Gsalpha gene (Arg201Cys) was found in the genomic DNA isolated from the peripheral blood and the bone tissue, but not in genomic DNA isolated from the skin and pleura samples. ..
- Happle R. Speckled lentiginous nevus syndrome: delineation of a new distinct neurocutaneous phenotype. Eur J Dermatol. 2002;12:133-5 pubmed..The postulated new phenotype is tentatively categorized as a paradominant trait. Future clinical studies will probably confirm the existence of speckled lentiginous nevus syndrome as a distinct neurocutaneous phenotype. ..
- Payne M, Nadell J, Lacassie Y, Tilton A. Congenital glaucoma and neurofibromatosis in a monozygotic twin: case report and review of the literature. J Child Neurol. 2003;18:504-8 pubmed..Newborns with unilateral congenital glaucoma should raise high suspicion for neurofibromatosis 1 and its associated findings, which might need immediate intervention. ..
- Talhari C, Bylaite M, Plettenberg H, Ruzicka T, Megahed M. Kissing café-au-lait macule of the eyelids: report of the first case. Clin Exp Dermatol. 2006;31:149-51 pubmed
- Chen W, Fan P, Happle R. Partial unilateral lentiginosis with ipsilateral Lisch nodules and axillary freckling. Dermatology. 2004;209:321-4 pubmed..This case provides further evidence in favor of the concept that partial unilateral lentiginosis represents a mosaic manifestation of type 1 neurofibromatosis. ..
- Georgescu E, Stănescu L, Georgescu A, Dumitrescu D, Foarfă C, Calin G. Bone abnormalities occurring in the follow-up of the patients with neurofibromatosis type 1. Rom J Morphol Embryol. 2007;48:249-56 pubmed..We want to have a separate mention for the maxillary and mandible involvement, which according to our information is not a rare form. ..
- Wagoner H, Steinmetz R, Bethin K, Eugster E, Pescovitz O, Hannon T. GNAS mutation detection is related to disease severity in girls with McCune-Albright syndrome and precocious puberty. Pediatr Endocrinol Rev. 2007;4 Suppl 4:395-400 pubmed..Until improvements in the diagnostic utility of GNAS activating mutation analysis from leukocyte genomic DNA occur, such testing in patients with atypical forms of MAS should continue to be reserved for research settings. ..
- Tan T, Amor D, Chow C. Juvenile papillomatosis of the breast associated with neurofibromatosis 1. Pediatr Blood Cancer. 2007;49:363-4 pubmed
- De Schepper S, Maertens O, Callens T, Naeyaert J, Lambert J, Messiaen L. Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytes. J Invest Dermatol. 2008;128:1050-3 pubmed
- Downs A, Rickard A, Palmer J. Laser treatment of benign pigmented lesions in children: effective long-term benefits of the Q-switched frequency-doubled Nd:YAG and long-pulsed alexandrite lasers. Pediatr Dermatol. 2004;21:88-90 pubmed
- Valdivieso R. Ipsilateral café-au-lait macules, deafness, and pituitary microadenoma in a 35-year-old woman. Int J Dermatol. 2008;47:171-3 pubmed publisher..The association between ipsilateral café-au-lait macules, deafness, and pituitary adenoma has not been described previously...
- Fernandez Flores A, Orduña O, Aguirrezabal M. Café-au-lait macules: occasional fatal sequels of benign pigmented lesions. Acta Dermatovenerol Croat. 2008;16:79-82 pubmed..The immediate cause of death was intrathoracic neurofibroma causing compression that led to fracture of the thoracic vertebrae and laceration of the aorta with massive hemothorax. ..
- Mariwalla K, Dover J. The use of lasers in the pediatric population. Skin Therapy Lett. 2005;10:7-9 pubmed..We present our opinion, based upon decades of clinical experience, on the role of lasers to treat port wine stains, superficial hemangiomas, and café au lait macules in children. ..
- Amer M, Mostafa F, Nasr A. Lentiginous macules and patches of neurofibromatosis (an approach to better terminology). J Eur Acad Dermatol Venereol. 2001;15:39-42 pubmed..On the other hand, the café-au-lait patches should be considered as lentiginous patches. Freckles should be restricted to sun-exposed areas in fair-skinned persons only. ..
- Möhrenschlager M, Engst R, Müller Weihrich S, Spiessl W, Rüdisser K, Weigl L, et al. Association of urticaria pigmentosa with café-au-lait spots, neurofibromas and neurofibroma-like neoplasms: a mere coincidence?. Dermatology. 2003;206:297-302 pubmed..Urticaria pigmentosa (UP) is characterized by dense aggregates of mast cells in the dermis. There is consistent evidence from the literature that mast cells may play a pathogenetic role in the development of neurofibromas and other tumors...
- Rubio González T, Alvarez Valiente H. [Neurofibromatosis and cystic fibrosis: a case report]. Rev Neurol. 1999;29:604-6 pubmed..In this case there was a coincidence of two disorders of monogenic aetiology: neurofibromatosis and cystic fibrosis. ..
- Chen C, Liu J, Cheng S, Chang F, Yuh Y. McCune-Albright syndrome associated with pituitary microadenoma: patient report. J Pediatr Endocrinol Metab. 2004;17:365-9 pubmed..Ovarian cysts may be detected on pelvic ultrasound. Our patient was also found to have pituitary microadenoma, evidenced by dynamic magnetic resonance imaging. ..
- Okazaki M, Yoshimura K, Suzuki Y, Uchida G, Kitano Y, Harii K, et al. The mechanism of epidermal hyperpigmentation in café-au-lait macules of neurofibromatosis type 1 (von Recklinghausen's disease) may be associated with dermal fibroblast-derived stem cell factor and hepatocyte growth factor. Br J Dermatol. 2003;148:689-97 pubmed..These findings suggest that increased secretion of HGF and SCF by dermal fibroblasts may be associated with the accentuated epidermal melanization observed in CALMs in the skin of NF1 patients. ..
- O Regan G, Watson R, Orr D, O Donovan D, Russell J, Phelan E, et al. Management of vascular birthmarks: review of a multidisciplinary clinic. Ir Med J. 2007;100:425-7 pubmed..Significantly, 62% of vascular malformations were assigned an incorrect diagnosis, highlighting the need for a specialised clinic. ..
- Roman R, Johnson M, Codner E, Cattani A, Garcia H, Mericq V, et al. [Clinical and molecular study of Chilean patients with McCune-Albright syndrome]. Rev Med Chil. 2001;129:1365-72 pubmed..The R201H mutation can be detected in white blood cells, in approximately 70% of cases. Patients exhibit wide clinical variability with the same molecular defect. This suggests that tissues have different proportions of mutant cells. ..
- Young I, Barrow M, Hall C. Microcephalic osteodysplastic primordial short stature type II with café-au-lait spots and moyamoya disease: another patient. Am J Med Genet A. 2004;127A:218-20 pubmed
- Sbidian E, Wolkenstein P, Valeyrie Allanore L, Rodriguez D, Hadj Rabia S, Ferkal S, et al. NF-1Score: a prediction score for internal neurofibromas in neurofibromatosis-1. J Invest Dermatol. 2010;130:2173-8 pubmed publisher..75) in both data sets. The presence of internal neurofibromas can be accurately predicted using a simple clinical score. Further work will establish the score threshold that identifies patients at high risk for complications...
- Bain S. Physical signs for the general dental practitioner. Case 39. Café au lait spots due to neurofibromatosis. Dent Update. 2006;33:572 pubmed
- Nanda A. Autoimmune diseases associated with neurofibromatosis type 1. Pediatr Dermatol. 2008;25:392-3 pubmed publisher..Whether these associations reflect a causal relationship with neurofibromatosis type 1 or are coincidental needs to be settled. ..
- Kannu P, Kelly P, Aftimos S. Microcephalic osteodysplastic primordial dwarfism type II: a child with café au lait lesions, cutis marmorata, and moyamoya disease. Am J Med Genet A. 2004;128A:98-100 pubmed
- Kordić R, Sabol Z, Cerovski B, Katusic D, Jukic T. Eye disorders in neurofibromatosis (NF1). Coll Antropol. 2005;29 Suppl 1:29-31 pubmed..Its ease of clinical recognition and if present with other diagnostic signs (for instance café au lait patches) could be deemed as reliable diagnostic criterion of NF1 in childhood. ..
- Jacques C, Dietemann J. [Imaging features of neurofibromatosis type 1]. J Neuroradiol. 2005;32:180-97 pubmed..Vascular lesions may occur resulting in arterial hypertension and aneurysm formation. ..
- De Vos M, Hayward B, Charlton R, Taylor G, Glaser A, Picton S, et al. PMS2 mutations in childhood cancer. J Natl Cancer Inst. 2006;98:358-61 pubmed..This cancer syndrome can be mistaken for neurofibromatosis type 1, with important management implications including the risk of the disorder occurring in siblings and the likelihood of tumor development in affected individuals. ..
- Taieb A, Boralevi F. Hypermelanoses of the newborn and of the infant. Dermatol Clin. 2007;25:327-36, viii pubmed..Recently, molecular diagnosis has become available for some rare entities, such as hereditary symmetrical dyschromatoses, but the bulk of nevoid lesions are not understood at the molecular level...
- Okur F, Oguz A, Karadeniz C, Citak C, Bayik P, Boyunaga O. Malignant triton tumor of the pelvis in a 2-year-old boy. J Pediatr Hematol Oncol. 2006;28:173-6 pubmed..To our knowledge our case is one of the youngest patients reported with a malignant triton tumor and the second pediatric case with a pelvic malignant triton tumor. ..
- Ke M, Soriano T, Lask G. Optimal treatments for hyperpigmentation. J Cosmet Laser Ther. 2006;8:7-13 pubmed..By combining topical bleaching agents, chemical peels, laser therapy, and adequate photo-protection, many pigmentary disorders can be successfully treated. A review of recent trials and new technologies will be discussed. ..
- Boccardi D, Menni S, Ferraroni M, Stival G, Bernardo L, La Vecchia C, et al. Birthmarks and transient skin lesions in newborns and their relationship to maternal factors: a preliminary report from northern Italy. Dermatology. 2007;215:53-8 pubmed..Dermatologic conditions are common in the newborns and may justify dermatologic examination. ..
- Martinez Glez V, Lapunzina P, Delicado A, Tendero A, Mori M, de Torres M, et al. Mietens-Weber syndrome: two new patients and a review. Clin Dysmorphol. 2006;15:175-7 pubmed..The finding of congenital nystagmus and radii dislocation in a patient with mental retardation is probably nonrandom and is highly suggestive of Mietens-Weber syndrome. ..
- Marona M, Zwolińska G, Turaj W, Szczudlik A. [Neurofibromatosis type 2 in a child - diagnostic difficulties]. Neurol Neurochir Pol. 2008;42:178-84 pubmed
- Thami G, Kaur S, Kanwar A. Association of juvenile xanthogranuloma with café-au-lait macules. Int J Dermatol. 2001;40:283-5 pubmed..This confirmed the diagnosis of juvenile xanthogranuloma. The parents were informed about the benign and self-limiting nature of the disorder and were advised to bring the child for regular follow-up. ..
- Lopez Pison J, Cuadrado Martín M, Boldova Aguar M, Muñoz Mellado A, Cabrerizo de Diago R, Pena Segura J. [Neurofibromatosis in children. Our experience]. Rev Neurol. 2003;37:820-5 pubmed..We followed the most widely used method of clinical and ophthalmological control, and complementary examinations were performed according to the clinical features. If neuroimaging is used, it must be MRI. ..
- Plensdorf S, Martinez J. Common pigmentation disorders. Am Fam Physician. 2009;79:109-16 pubmed..Patients with extensive disease may be candidates for depigmentation therapy. Other acquired disorders may improve or resolve with treatment of the underlying condition. ..
- Menko F, Kaspers G, Meijer G, Claes K, van Hagen J, Gille J. A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer. Fam Cancer. 2004;3:123-7 pubmed..Apparently, not only MLH1, MSH2 and PMS2, but also MSH6 is involved in the syndrome of childhood cancer and signs of neurofibromatosis type 1. ..
- Niwald A, Budzińska Mikurenda M, Rogozińska Zawiślak A, Mikołajczyk W, Niwald M, Grałek M. Visual symptoms in McCune-Albright syndrome--case report. Klin Oczna. 2006;108:131-3 pubmed..The ophthalmic disturbances were the part of described syndrome. The active behaviour of the ophthalmologist in multidisciplinary diagnostic procedure led to the establishment of a proper diagnosis and optimal treatment. ..
- Bhidayasiri R, Pulst S. Segmental unilateral lentiginosis in generalized neurofibromatosis type 1. Arch Neurol. 2002;59:1331-2 pubmed
- Hoo J, Shrimpton A. Familial hyper- and hypopigmentation with age-related pattern change. Am J Med Genet A. 2005;132A:215-8 pubmed