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Café au lait spots

Fan Yang, Song Xu, Renwang Liu, Tao Shi, Xiongfei Li, Xuebing Li, Gang Chen, Hongyu Liu, Qinghua Zhou, Jun Chen
Introduction: Neurofibromatosis type 1 (NF1) is a common Mendelian multi-system disorder that is characterized by café-au-lait spots (CLS), axillary freckling, optic glioma and plexiform neurofibroma. Various mutations of the NF1 gene are widely accepted to be the main cause of this disease, while whether there are still certain other modifier genes that could influence the phenotypes of NF1 is our concern. Patients and Methods: One proband and his father are involved, who are characterized by plexiform neurofibroma and cutaneous neurofibroma, respectively...
2018: OncoTargets and Therapy
Jung Min Lee, Jae Min Lee, Jong Jin Hyun, Hyuk Soon Choi, Eun Sun Kim, Bora Keum, Yoon Tae Jeen, Hoon Jai Chun, Hong Sik Lee, Chang Duck Kim, Dong Sik Kim, Joo Young Kim
We report our experience with a synchronous case of gastrointestinal stromal tumor (GIST) and intraductal papillary neoplasm of the bile duct (IPNB) in an elderly woman with neurofibromatosis type 1 (NF-1). A 72-year-old woman presented with a 2-mo history of right upper abdominal pain unrelated to diet and indigestion. Fourteen years earlier, she had been diagnosed with NF-1, which manifested as café au lait spots and multiple nodules on the skin. Computed tomography (CT) revealed a multilocular low-density mass with septation, and mural nodules in the right hepatic lobe, as well as a 1...
January 28, 2018: World Journal of Gastroenterology: WJG
Bihui Zhang, Yinghua Zou, Min Yang, Guochen Niu
RATIONALE: Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder characterized by cafe au lait macules and neurofibromatosis. Renal artery aneurysms are relatively uncommon. Endovascular techniques are effective in treating renal aneurysms but successful cases are rarely reported in NF-1 adults. PATIENT CONCERNS: The patient was one 23-year-old female presented with hypertension, multiple café-au-lait spots ≥15 mm, and plexiform neurofibroma. Renal artery aneurysms were found by ultrasound...
November 2017: Medicine (Baltimore)
Natália Battisti Serafini, Cássio Battisti Serafini, Alanna Santoro Vinhas, Marcio Barbosa Godinho
Neurofibromatosis type 1 is a multisystem genetic disease of autosomal dominant transmission that reveals important cutaneous manifestations such as café-au-lait spots, multiple neurofibromas, and ephelides in skin fold areas, as well as hamartomatous lesions in the eyes, bones, glands, and central nervous system. Moyamoya disease is a rare progressive vaso-occlusive disorder that occurs with important ischemic cerebrovascular events. Despite the rarity of this association in childhood, children diagnosed with neurofibromatosis type 1 and focal neurologic symptoms should be investigated for moyamoya syndrome...
November 2017: Anais Brasileiros de Dermatologia
Julia Taeubner, Katharina Wimmer, Martine Muleris, Olivier Lascols, Chrystelle Colas, Christine Fauth, Triantafyllia Brozou, Joerg Felsberg, Jasmin Riemer, Michael Gombert, Sebastian Ginzel, Jessica I Hoell, Arndt Borkhardt, Michaela Kuhlen
Constitutional mismatch repair deficiency (CMMRD) is an autosomal recessively inherited childhood cancer susceptibility syndrome caused by biallelic germline mutations in one of the mismatch repair (MMR) genes. The spectrum of CMMRD-associated tumours is very broad and many CMMRD patients additionally display signposting non-neoplastic features, most frequently café-au-lait macules and other pigmentation alterations. We report on a 13-month-old girl suspected of having CMMRD due to a desmoplastic medulloblastoma and a striking skin pigmentation that included multiple café-au-lait macules, hypopigmented areas and Mongolian spots...
January 4, 2018: European Journal of Human Genetics: EJHG
Hidefumi Suzuki, Kyoko Hosokawa, Michio Ono, Yasuhiro Kojima, Masutaro Kanda, Hiroshi Shibasaki
A 24-year-old woman slowly developed mild unsteadiness of gait. Neurological examination revealed mild dysmetria of the left upper and lower limbs. Standing and gait were unsteady, and tandem gait was impossible. Cranial magnetic resonance imaging (MRI) showed an enlarged left cerebellar hemisphere with striated lines, a characteristic finding of Lhermitte-Duclos disease. She also had papules on the forehead, goiter, lactating adenoma, glycogenic acanthosis in the esophagus, café-au-lait spot, and hemangioma and keratosis on the dorsum of foot...
December 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
Laura Daniela Marinău, Cristina Elena Singer, Cristian Meşină, Elena Carmen Niculescu, Ileana Puiu, Ileana Octavia Petrescu, Cristiana Geormăneanu, Augustina Cornelia Enculescu, Daniela Elise Tache, Ştefana Oana Purcaru, Simona Răciulă, Cosmina Lucia Damian
In childhood, the most common type of brain tumors is medulloblastoma, a highly malignant primary brain tumor that is found in the cerebellum or posterior fossa. The tumor mass increases and generates obstructive hydrocephalus. Risk factors (that might be involved in some cases) include the genetic syndrome such as type 1 neurofibromatosis, exposure to ionizing radiation and Epstein-Barr virus. Medulloblastoma is associated with recessively inherited Turcot disease and with conditions as ataxia-telangiectasia syndrome in several cases...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
Hamid Kalantari, Hamideh Karimi, Seyed Navid Almadani, Mostafa Fakhri, Pegah Mokhtari, Hamid Gourabi, Anahita Mohseni Meybodi
Ring chromosome 15 [r(15)] is a rare condition with a mild-to-severe growth failure, mental disabilities, café-au-lait spots, specific facial features, fertility difficulties and other minor dysmorphic stigmata. Of almost 50 affected individuals reported in the literature, none were assessed for the precise breakpoint positioning, which creates uncertainty in defining a specific phenotype for the deleted segment. This study reports for the first time the vertical transmission of r(15) in three consecutive generations of a family, including a subfertile man, his mother and his newborn infant...
February 2018: Reproductive Biomedicine Online
Ofir Artzi, Joseph N Mehrabi, Amir Koren, Roni Niv, Moshe Lapidoth, Assi Levi
Café-au-lait macules (CALMs) present as benign hyperpigmented, well-circumscribed spots on the skin for which many patients seek treatment for aesthetic reasons. The objective of this study is to report our experience in treating CALMs using a picosecond 532-nm neodymium-doped yttrium aluminium garnet (PS 532 nm) laser. This is a retrospective case series of 16 patients with CALMs who were treated by a PS 532-nm laser (1-4 treatments, 4-8 weeks apart). Response as seen on clinical photographs was assessed by two independent dermatologists and graded on a scale of 0 (exacerbation) to 5 (95-100% improvement)...
November 2, 2017: Lasers in Medical Science
Jideofor Okechukwu Ugwu, Michael Emeka Onwukamuche, Hyginus O Ekwunife, Jude Kennedy C Emejulu, Victor Modekwe, Osuigwe An Osuigwe
Malignant peripheral nerve sheath tumor is a rare tumor occurring in 5%-10% of all malignant soft tissues sarcomas and triton tumor arising from neurofibromatosis type 1 (NF-1) is even rarer with associated high rate of mortality. No case of triton tumor has been reported in Nigeria to the best of our knowledge. We seek to report a case of lately detected retroperitoneal triton tumor presenting in a 12-year-old Nigerian child who was brought with bilateral lower limb weaknesses, weight loss, and a right lumbar mass...
July 2017: Nigerian Journal of Surgery: Official Publication of the Nigerian Surgical Research Society
Fujun Lin, Dan Zhang, Juan Chang, Xuanli Tang, Wenbin Guan, Gengru Jiang, Chun Zhu, Fan Bian
Target antigens in idiopathic membranous nephropathy (MN) include the phospholipase A2 receptor (PLA2R), and in some cases, the thrombospondin type 1 domain-containing 7A (THSD7A). A notable phenomenon is the high rate of cancer (reported to be as high as 20%) in patients with THSD7A-associated MN. Neurofibromatosis type 1 (NF1) is an autosomal dominant disease caused by NF1 gene mutation, and clinically characterized by multiple cutaneous neurofibromas and café-au-lait spots. In this article, we report a patient with NF1 who developed THSD7A-associated MN when the NF1 skin lesions deteriorated...
October 24, 2017: European Journal of Medical Genetics
Yassine Abaloun, Yousra Ajhoun
Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease manifests as cutaneous café-au-lait spots and neurofibromas. It is one of the most common autosomal dominant genetic diseases. It is extremely variable in its individual manifestation. Cutaneous and neurologic symptoms are the most common manifestations but it can also affect other organs including eyes, bones and other areas. Lisch nodules are the most common ocular manifestations in NF-1. They are asymptomatic small pigmented iris tumors (iris hamartomas) which can help suggest the diagnosis of NF1 as they are characteristic of this disease and mostly occur in adult patients...
2017: Pan African Medical Journal
Han Mi Jung, Hyub Kim, Ji Hae Lee, Gyong Moon Kim, Jung Min Bae
Punctate leukoderma presents as numerous, distinct, round or oval depigmented spots. Recently, laser therapy-induced punctate leukoderma associated with various Q-switched laser and carbon dioxide laser have been reported. A 25-year-old man presented with numerous, discrete, round, confetti-like, depigmented macules on his left neck. He had undergone 3 sessions of 532-nm Q-switched Neodymium: Yttrium-Aluminum-Garnet laser treatment for café-au-lait macules three years ago. After the last laser treatment session, the punctate leukoderma had been developed...
October 2017: Annals of Dermatology
Nolan Mann, Truong Ma, Arthur Dalton
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by the appearance of cafe au lait spots, neurofibromas and Lisch nodules. There is an established link between NF1 and the development of breast cancer in women; however, due to the rarity of both NF1 and male breast cancer, the same link has yet to be elucidated in men. The concurrent presentation of NF1 and male breast cancer is a very rare phenomenon with only a handful of case descriptions in the literature. To the best of our knowledge, there have only been four other reported cases of NF1 and male breast cancer before ours...
July 2017: Journal of Surgical Case Reports
Yuhei Hakozaki, Shinichi Sameshima, Teppei Tatsuoka, Takashi Okuyama, Yukinori Yamagata, Tamaki Noie, Masatoshi Oya, Akiko Fujii, Yoshihiko Ueda, Chieko Shimura, Kazumoto Katagiri
BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomally dominant inherited disorder characterized by multiple pigmented skin spots (café-au-lait spots) and neurofibroma. NF1 is associated with a wide variety of benign or malignant tumors. We report a NF1 patient who received surgical treatment for rectal carcinoma and multifocal small intestinal gastrointestinal stromal tumors (GISTs). CASE PRESENTATION: A 70-year-old female patient with NF1 was referred to our hospital after a positive fecal occult blood test...
August 23, 2017: World Journal of Surgical Oncology
Luca Ferrari, Giulietta Scuvera, Arianna Tucci, Donatella Bianchessi, Francesco Rusconi, Francesca Menni, Elena Battaglioli, Donatella Milani, Paola Riva
Neurofibromatosis type I (NF1) microdeletion syndrome, which is present in 4-11% of NF1 patients, is associated with a severe phenotype as it is caused by the deletion of NF1 and other genes in the 17q11.2 region. The variable expressivity of the disease makes it challenging to establish genotype-phenotype correlations, which also affects prognosis and counselling. We here describe a 3-year-old NF1 patient with an atypical deletion and a complex phenotype. The patient showed overgrowth, café au lait spots, inguinal freckling, and neurological abnormalities...
October 2017: Human Genetics
Nery Romero, Ingrid Zegarra, Hugo Delgado
We report a rare case of diffuse type of gastric cancer with signet ring cells in 10 years old boy who was admitted with a 12 months history with weight loss, dysphagia to solids first and to liquids later, anorexia, fatigue, dizziness, vomiting and later, with pain in the left upper quadrant. On examination, he appeared pale, malnourished, with café-au- lait spots over the trunk and extremities. Laboratory tests showed; Hb 7.5 g, albumin 2.62 g, Thevenon positive on stools. Abdominal ultrasound examination showed periaortic masses and diffuse space occupying lesions in the liver...
April 2017: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
Jiehoon Kim, Hoon Hur, Yu Ri Kim, Sung Bin Cho
Café-au-lait macules (CALMs) are light to dark brown macules or patches of increased melanin concentration found along the dermoepidermal junction. Although many attempts to treat CALMs using various kinds of laser/light-based devices have been reported, CALMs remain refractory thereto with high recurrence rates. In this case series, we describe four patients with idiopathic CALMs that were effectively and safely treated with a non-ablative, high-fluenced, Q-switched (QS), 1,064-nm neodymium:yttrium aluminum garnet (Nd:YAG) laser...
July 6, 2017: Journal of Cosmetic and Laser Therapy: Official Publication of the European Society for Laser Dermatology
Tayane Muniz Fighera, Poli Mara Spritzer
McCune-Albright syndrome (MAS) is a rare disease defined by the triad of polyostotic fibrous dysplasia of bone, café-au-lait skin spots, and precocious puberty. No available treatment is effective in changing the course of fibrous dysplasia of bone, but symptomatic patients require therapeutic support to reduce bone pain and prevent fractures and deformities. We report the case of a 27-year-old woman with MAS and severe fibrous dysplasia. She was diagnosed with MAS at 4 years of age and, during follow-up, she had multiple pathological fractures and bone pain refractory to treatment with bisphosphonates, tricyclic antidepressants, and opioids...
2017: Case Reports in Endocrinology
Swetha Sara Philip, Thomas Kuriakose, Geeta Chacko
A 6-year-old boy diagnosed as anisometropic amblyopia, with only café-au-lait spots and a family history of neurofibromatosis, presented with decrease in vision in the both eyes. Dilated fundus examination showed epiretinal membrane in both eyes over the macula. He underwent successful surgical management of the epiretinal membrane.
June 2017: Indian Journal of Ophthalmology
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