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213 results for

Cafe-Au-Lait Macule

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81. Neurofibromatosis, Type 1 (Overview)

of at least 2 of 7 criteria to confirm the presence of NF1. Many of these signs do not appear until later childhood or adolescence; thus, confirming the diagnosis often is delayed despite a suspicion of NF1. The 7 clinical criteria used to diagnose NF1 are as follows, in the absence of alternative diagnoses: Six or more café-au-lait spots or hyperpigmented macules greater than 5 mm in diameter in prepubertal children and greater than 15 mm postpubertal Axillary or inguinal freckles (>2 freckles) Two (...) , Liu, GT, Gutmann DH. Optic pathway gliomas in neurofibromatosis-1: Controversies and recommendations. Ann Neurol . 2007. 61:189-98. . Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. J Med Genet . 2009 Jul. 46(7):431-7. . Shah KN. The diagnostic and clinical significance of café-au-lait macules. Pediatr Clin North Am . 2010. 57:1131-53. . Karagiannis

2014 eMedicine.com

82. Neurofibromatosis (Overview)

known as von Recklinghausen neurofibromatosis, which is the most common subtype and is referred to as peripheral neurofibromatosis, and , which is referred to as central neurofibromatosis. These descriptions are not especially accurate, because type 1 neurofibromatosis often has central features. This article will examine the dermatologic manifestations of type 1 neurofibromatosis. Next: Presentation Neurofibromatosis is often diagnosed because of unusual pigmentary patterns. Café au lait macules (...) —irregularly shaped, evenly pigmented, brown macules—are often present at birth, but they increase in number during the first few years of life. [ ] Neurofibromas form in late adolescence, most commonly in the skin. Patients may report cutaneous discoloration or disfigurement or more serious physical symptoms (eg, pain caused by neurofibromas, pathologic fractures, hypertensive headaches due to pheochromocytoma). Café au lait spots Most individuals with neurofibromatosis have 6 or more café au lait spots

2014 eMedicine.com

83. Nevus Anemicus (Overview)

occurring in the setting of neurofibromatosis type 1 describes equal frequency in females and males. [ ] Age Nevus anemicus may be present at birth or first appreciated in early childhood. Previous Next: Prognosis The prognosis of nevus anemicus is excellent. Lesions of nevus anemicus usually persist unchanged throughout life. They are asymptomatic. However, nevus anemicus presenting in a child with multiple café-au-lait macules should raise concern for neurofibromatosis type 1. Two prospective studies (...) : Loretta S Davis, MD; Chief Editor: William D James, MD Share Email Print Feedback Close Sections Sections Nevus Anemicus Overview Background Nevus anemicus is a congenital vascular anomaly that presents clinically as a hypopigmented macule or patch, as shown below. The lesional pallor is due to a localized hypersensitivity to catecholamines with resultant vasoconstriction. Nevus anemicus is an uncommon disorder and was first described by Vorner in 1906. Irregularly shaped, well-demarcated

2014 eMedicine.com

84. Epilepsy in Children with Mental Retardation (Overview)

or athetosis. Sensory: Children with disabilities and ID are more likely than other children to have visual impairment and hearing deficits Skin: Findings can include hyperpigmented and hypopigmented macules, such as café-au-lait macules (associated with neurofibromatosis type 1), as well as ash-leaf spots (associated with tuberous sclerosis), fibromas, and irregular pigmentation patterns Extremities: Although ID with multiple congenital anomalies and major malformations accounts for only 5-10% of all

2014 eMedicine.com

85. Epilepsy in Adults with Mental Retardation (Overview)

or athetosis. Sensory: Children with disabilities and ID are more likely than other children to have visual impairment and hearing deficits Skin: Findings can include hyperpigmented and hypopigmented macules, such as café-au-lait macules (associated with neurofibromatosis type 1), as well as ash-leaf spots (associated with tuberous sclerosis), fibromas, and irregular pigmentation patterns Extremities: Although ID with multiple congenital anomalies and major malformations accounts for only 5-10% of all

2014 eMedicine.com

86. Albright Syndrome (Follow-up)

. This degree of fibrous dysplasia can result in multiple cranial nerve compression neuropathies, of which blindness and deafness (from involvement of cranial nerves II and VIII) are among the most disabling. Café au lait spot. This is a fairly large, irregular-edged ("coast-of-Maine" variety) lesion. It presents as a brownish, otherwise-asymptomatic macule/patch. The degree of pigmentation is fairly uniform. Fibrous dysplasia of a long bone characterized by focal bony expansion, patchy areas of sclerosis (...) =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvMTI3MjMzLXRyZWF0bWVudA== processing > McCune-Albright Syndrome Treatment & Management Updated: Jan 17, 2019 Author: Gabriel I Uwaifo, MD; Chief Editor: George T Griffing, MD Share Email Print Feedback Close Sections Sections McCune-Albright Syndrome Treatment Approach Considerations McCune-Albright syndrome (MAS) is a multisystemic condition with a host of variable presentations. Diagnosis and treatment of this syndrome require a high index of suspicion in any patient with characteristic café-au-lait spots

2014 eMedicine.com

87. Bloom Syndrome (Congenital Telangiectatic Erythema) (Follow-up)

with photosensitivity. Efforts to minimize exposure to other known environmental mutagens are also advisable. [ ] Identification of café au lait macules by dermatologists would help to identify the risk of neoplasms in these patients. [ ] Immunoglobulin replacement can be instituted in cases of severe hypogammaglobulinemia. Infections should be managed thoroughly. Associated diabetes should be managed properly. Medical treatment of cancers in patients with Bloom syndrome has many challenges; chemotherapy-induced

2014 eMedicine.com

88. Skin, Benign Skin Lesions

, follow: Blister - Nonspecific term for fluid-filled lesion (see vesicle or bulla) Bulla - Fluid-filled lesion >5 mm in greatest dimension Erosion* - Loss of epidermis Excoriation - Lesion of traumatic nature with epidermal loss in a generally linear shape Lichenification * - Grossly thickened, leathery, hyperpigmented skin with hyperkeratosis and deep, widely-spaced skin markings Macule - Flat circumscribed area demarcated by color from surrounding tissue Nodule - Solid raised discrete lesion >5 mm (...) occur in areas in which sebaceous glands predominate; they occur primarily in the head and neck regions but can be present in any hair-bearing region of the body. They are usually small (2-10 mm in diameter), smooth surface lesions that occur usually as macules but also can have papular formations. They commonly are tan to reddish-brown to yellowish in color and occasionally contain central speckles. Infrequently, they can occur on the trunk or legs and have a polypoid appearance. Basal cell

2014 eMedicine Surgery

89. Skin, Congenital Hairy Nevi

of males and consists of a sharply but irregularly demarcated area demonstrating hyperpigmentation and hypertrichosis. [ ] Click for more information and for images. Café-au-lait macules: These flat, light brown surface lesions are associated with neurofibromas. [ ] Click to view an image of Café-au-lait macules. Congenital blue nevus: This lesion is a small, well circumscribed, dome-shaped nodule of slate blue or bluish-black color. [ ] See Medscape Reference article for more information (...) is a light brown patch or band that is present since birth. In childhood, it becomes dotted with small dark brown macules. [ ] Click to view an image of nevus spilus. Pigmented epidermal nevi: This condition is characterized by a persistent linear, pruritic lesion composed of red, scaling, verrucous papules arranged in one or several lines. [ ] Click to view an image of pigmented epidermal nevi. Previous Next: Management and Treatment Management Two factors influence the treatment of congenital

2014 eMedicine Surgery

90. Speckled Lentiginous Nevus (Follow-up)

Mar. 34(2):133-5. . Happle R. Speckled lentiginous nevus syndrome: delineation of a new distinct neurocutaneous phenotype. Eur J Dermatol . 2002 Mar-Apr. 12(2):133-5. . Jordaan HF, Happle R. Phacomatosis spilorosea associated with lymphoedema. Br J Dermatol . 2008 Aug. 159(2):489-91. . Kopf AW, Levine LJ, Rigel DS, Friedman RJ, Levenstein M. Prevalence of congenital-nevus-like nevi, nevi spili, and cafe au lait spots. Arch Dermatol . 1985 Jun. 121(6):766-9. . Borrego L, Hernandez Santana J, Baez O (...) A large unilateral speckled lentiginous nevus that contains numerous small dark macules. Extensive speckled lentiginous nevus. Prominent basal layer pigmentation similar to that seen in lentigo simplex (hematoxylin-eosin stain, original magnification X200). Elongated rete ridges and lentiginous proliferation of melanocytes at the dermal-epidermal junction (hematoxylin-eosin stain, original magnification X200). Junctional melanocytic nevus composed of small nests of melanocytes and lentiginous

2014 eMedicine.com

91. Mongolian Spot (Diagnosis)

PC, Cirio A, Cervini AB. [Phakomatosis pigmentovascularis cesioflammea: a case report]. Arch Argent Pediatr . 2018 Feb 1. 116 (1):e121-e124. . Hayashi S, Kaminaga T, Tantcheva-Poor I, Hamasaki Y, Hatamochi A. Patient with extensive Mongolian spots, nevus flammeus and nevus vascularis mixtus: A novel case of phacomatosis pigmentovascularis. J Dermatol . 2016 Feb. 43 (2):225-6. . Neri I, Lambertini M, Tengattini V, Rivalta B, Patrizi A. Halolike Phenomenon Around a Café au Lait Spot Superimposed (...) on a Mongolian Spot. Pediatr Dermatol . 2017 May. 34 (3):e152-e153. . Temel AB, Bassorgun CI, Nur B, Alpsoy E. Mongolian spots combined with halo-like disappearance surrounding café au lait spots. Indian J Dermatol Venereol Leprol . 2018 Jul-Aug. 84 (4):474-477. . AlJasser M, Al-Khenaizan S. Cutaneous mimickers of child abuse: a primer for pediatricians. Eur J Pediatr . 2008 Nov. 167(11):1221-30. . Pessach Y, Goldberg I, Sprecher E, Gat A, Harel A. An unusual presentation of congenital dermal melanocytosis

2014 eMedicine.com

92. Movement Disorders in Individuals with Developmental Disabilities (Diagnosis)

movements, such as dystonia or athetosis. Sensory: Children with disabilities and ID are more likely than other children to have visual impairment and hearing deficits Skin: Findings can include hyperpigmented and hypopigmented macules, such as café-au-lait macules (associated with neurofibromatosis type 1), as well as ash-leaf spots (associated with tuberous sclerosis), fibromas, and irregular pigmentation patterns Extremities: Although ID with multiple congenital anomalies and major malformations

2014 eMedicine.com

93. Dermatologic Manifestations of Hematologic Disease (Diagnosis)

, and predisposition to malignancy. [ ] Patients have an increased incidence of spontaneous chromosomal abnormalities, due to problems with DNA repair. [ ] By the end of childhood, patients with Fanconi anemia develop hypoplastic bone marrow that affects all 3 lineages. Skin findings consist of several abnormalities of pigmentation. Many patients present with café au lait spots, which, in most individuals, are present at birth. Diffuse hyperpigmentation, which can also be an acquired phenomenon because of iron (...) or lupus anticoagulant, which can be detected based on the prolonged activated partial thromboplastin time (aPTT), Kaolin clotting time, or dilute Russell Viper venom time. In a large retrospective study from the Mayo Clinic, 41% of patients with lupus anticoagulant had skin lesions as the first sign of antiphospholipid syndrome. [ ] Cutaneous manifestations include livedo reticularis, necrotizing vasculitis, livedo vasculitis, thrombophlebitis, cutaneous ulceration and necrosis, erythematous macules

2014 eMedicine.com

94. Frontal Lobe Epilepsy (Diagnosis)

onset Physical examination in focal lobe epilepsy is typically normal but may reveal signs suggestive of syndromes or structural lesions that may be associated with epilepsy, such as the following: Facial dysmorphisms Cafe-au-lait spots, hypomelanotic macules, or neurofibromas Spastic hemiparesis, asymmetric muscle bulk See for more detail. Diagnosis For new-onset seizures, blood tests should be performed to rule out a metabolic cause (eg, hypoglycemia). For patients with an established diagnosis

2014 eMedicine.com

95. Mental Retardation (Diagnosis)

: Children with disabilities and ID are more likely than other children to have visual impairment and hearing deficits Skin: Findings can include hyperpigmented and hypopigmented macules, such as café-au-lait macules (associated with neurofibromatosis type 1), as well as ash-leaf spots (associated with tuberous sclerosis), fibromas, and irregular pigmentation patterns Extremities: Although ID with multiple congenital anomalies and major malformations accounts for only 5-10% of all cases, most

2014 eMedicine.com

96. Mental Retardation (Diagnosis)

), with a butterfly-like distribution, especially after puberty. Café au lait spots or nonpigmented ash leaf–shaped areas are also found. ID, epilepsy, and calcifications in the brain are seen, as are tumors. Epileptic seizures often begin as infantile spasms, which should alert the physician to look for other symptoms of this disorder. If tuberous sclerosis is diagnosed, both parents should be examined carefully because the mutation is inherited in approximately 28% of cases. Because of the dominant inheritance (...) with growth hormone improves somatic and behavioral deficits in these patients. [ , , , ] Disorders with autosomal-dominant inheritance is an example of the disorders in this group, which might be associated with ID. It is caused by a mutation in a gene affecting the formation of the ectodermal layer of the embryo. Because the skin and the CNS develop from this layer, abnormalities are seen in both. The skin lesions include angiofibromas in the form of macules on the cheeks (adenoma sebaceum

2014 eMedicine.com

97. McCune-Albright Syndrome (Diagnosis)

puberty caused by this condition is far more common in girls than in boys. In girls, it is the result of estrogen excess from ovarian follicular cysts. [ ] Because the sexual precocity associated with MAS is gonadotropin-independent, it is more accurately described as pseudoprecocious puberty. The café-au-lait spots in MAS are large melanotic macules, sometimes referred to as café-au-lait macules (CALMs). Except for hyperpigmentation of the basal layer, no abnormal pathology is seen. Fewer than 10 (...) in McCune-Albright syndrome. Note the asymmetrical affectation, with near-total obliteration of various neural foramina at the base of the skull. This degree of fibrous dysplasia can result in multiple cranial nerve compression neuropathies, of which blindness and deafness (from involvement of cranial nerves II and VIII) are among the most disabling. Café au lait spot. This is a fairly large, irregular-edged ("coast-of-Maine" variety) lesion. It presents as a brownish, otherwise-asymptomatic macule

2014 eMedicine.com

98. Epilepsy in Children with Mental Retardation (Diagnosis)

or athetosis. Sensory: Children with disabilities and ID are more likely than other children to have visual impairment and hearing deficits Skin: Findings can include hyperpigmented and hypopigmented macules, such as café-au-lait macules (associated with neurofibromatosis type 1), as well as ash-leaf spots (associated with tuberous sclerosis), fibromas, and irregular pigmentation patterns Extremities: Although ID with multiple congenital anomalies and major malformations accounts for only 5-10% of all

2014 eMedicine.com

99. Epilepsy in Adults with Mental Retardation (Diagnosis)

or athetosis. Sensory: Children with disabilities and ID are more likely than other children to have visual impairment and hearing deficits Skin: Findings can include hyperpigmented and hypopigmented macules, such as café-au-lait macules (associated with neurofibromatosis type 1), as well as ash-leaf spots (associated with tuberous sclerosis), fibromas, and irregular pigmentation patterns Extremities: Although ID with multiple congenital anomalies and major malformations accounts for only 5-10% of all

2014 eMedicine.com

100. Speckled Lentiginous Nevus (Treatment)

Mar. 34(2):133-5. . Happle R. Speckled lentiginous nevus syndrome: delineation of a new distinct neurocutaneous phenotype. Eur J Dermatol . 2002 Mar-Apr. 12(2):133-5. . Jordaan HF, Happle R. Phacomatosis spilorosea associated with lymphoedema. Br J Dermatol . 2008 Aug. 159(2):489-91. . Kopf AW, Levine LJ, Rigel DS, Friedman RJ, Levenstein M. Prevalence of congenital-nevus-like nevi, nevi spili, and cafe au lait spots. Arch Dermatol . 1985 Jun. 121(6):766-9. . Borrego L, Hernandez Santana J, Baez O (...) A large unilateral speckled lentiginous nevus that contains numerous small dark macules. Extensive speckled lentiginous nevus. Prominent basal layer pigmentation similar to that seen in lentigo simplex (hematoxylin-eosin stain, original magnification X200). Elongated rete ridges and lentiginous proliferation of melanocytes at the dermal-epidermal junction (hematoxylin-eosin stain, original magnification X200). Junctional melanocytic nevus composed of small nests of melanocytes and lentiginous

2014 eMedicine.com

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