Legius Syndrome
Consider the possibility of Legius syndrome, which can be confirmed by molecular genetic analysis, in patients with six or more café au lait macules and axillary freckling[mdedge.com]
Herein, we describe a case of a 16-year-old male presenting with multiple CALMs and axillary freckling.[ijpd.in]
Other features include axillary freckling, macrocephaly, Noonan-like facies, lipomas, learning disabilities and attention deficit-hyperactivity.[medical-dictionary.thefreedictionary.com]
Neurofibromatosis Type 1
Axillary freckling Axillary freckling (as well as freckling on the perineum), known as the Crowe sign, is a helpful diagnostic feature in neurofibromatosis (see the image[emedicine.com]
freckling.[medical-dictionary.thefreedictionary.com]
Axillary freckling and inguinal freckling often develop during puberty.[emedicine.com]
Pheochromocytoma-Islet Cell Tumor Syndrome
freckling 32 HP:0000997 13 episodic hypertension 32 HP:0000875 Symptoms via clinical synopsis from OMIM: 57 Lab: proteinuria hypercalcemia elevated urinary norepinephrine[malacards.org]
One of Carney's patients showed cafe-au-lait spots, measuring up to 4 cm in diameter, and axillary freckling.[symptoma.com]
freckling 0000997 Cafe-au-lait spot 0000957 Cerebral hemorrhage Bleeding in brain 0001342 Congestive heart failure Cardiac failure Cardiac failures Heart failure [ more ][rarediseases.info.nih.gov]
Watson Syndrome
Look for distinctive skin lesions, such as axillary freckling, mottling, small spherical patches, and areas of depigmentation.[checkorphan.org]
[…] inguinal freckling, pulmonary valvular stenosis, relative macrocephaly, short stature, and neurofibromas. [1] Watson syndrome is allelic to NF1, the same gene associated[en.wikipedia.org]
Axillary freckling less common.[dermnetnz.org]
Jaffe-Campanacci Syndrome
Figure 1 Typical “coast-of-California” café-au-lait spots (a) and axillary freckles (b).[bmcmusculoskeletdisord.biomedcentral.com]
In addition, axillary freckles and Lisch nodules were present in all four patients and multiple cutaneous neurofibromas in two patients.[ncbi.nlm.nih.gov]
freckling 13,14.[stage-journals.lww.com]
Pheochromocytoma in Childhood
Neurofibromatosis type 1 is typically associated with neurofibromas, café-au-lait spots, axillary freckling, Lisch nodules, optic gliomas, and abnormalities of the bone and[symptoma.com]
Plexiform Neurofibroma
On physical examination, there were multiple café-au-lait spots larger than 15 mm in diameter scattered over the patient's entire body and axillary freckling, but no cutaneous[ncbi.nlm.nih.gov]
Plexiform neurofibroma is mostly associated with autosomal dominant neurofibromatosis type 1, characterized by cutaneous findings such as café-au-lait spots, axillary freckling[mdedge.com]
Left axillary freckling was also present. On ocular examination, the patient could fix and follow with both eyes.[meajo.org]
Common Cold
[…] in the axillary or inguinal region, optic glioma, a distinc- tive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis[lijecnicki-vjesnik.hlz.hr]
[…] diagnosis of NF1 is based on the presence of two or more of the following criteria: six or more café au lait spots, 2 neurofibromas of any type or 1 plexiform neurofibroma, freckling[lijecnicki-vjesnik.hlz.hr]
Neurofibroma
Axillary freckling Axillary freckling (as well as freckling on the perineum), known as the Crowe sign, is a helpful diagnostic feature in neurofibromatosis (see the image[emedicine.medscape.com]
Freckling Neurofibromatosis Type 1 Café au Lait Macule Neurofibromatosis Type 1 Café au Lait Macule Neurofibromatosis Type 1 Optic Glioma Neurofibroma bright objects with[epilepsy.com]
Axillary freckling is akin to café-au-lait spots except they are smaller, about 1 to 3 mm in size, and occur in clusters.[hawaii.edu]
Occlusion of the Ophthalmic Artery
freckling, and brain MRI changes consistent with a hamartoma.[ncbi.nlm.nih.gov]
[…] investigation of a 15-year-old boy with left ophthalmic artery occlusion led us to a diagnosis of neurofibromatosis type I as there were numerous large cafe-au-lait spots, axillary[ncbi.nlm.nih.gov]