Pheochromocytoma-Islet Cell Tumor Syndrome
One of Carney's patients showed cafe-au-lait spots, measuring up to 4 cm in diameter, and axillary freckling.[symptoma.com]
One of the patients described by Carney and colleagues presented cafe-au-lait spots and axillary freckling characteristic of NF1.[symptoma.com]
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]
Other features include axillary freckling, macrocephaly, Noonan-like facies, lipomas, learning disabilities and attention deficit-hyperactivity.[medical-dictionary.thefreedictionary.com]
Herein, we describe a case of a 16-year-old male presenting with multiple CALMs and axillary freckling.[ijpd.in]
Neurofibromatosis-Noonan Syndrome
He has multiple café-au-lait spots and axillary freckling, relative macrocephaly, ptosis, mid-face hypoplasia, short neck and pulmonic stenosis.[ncbi.nlm.nih.gov]
Physical examination revealed multiple café-au-lait spots, axillary freckling, relative macrocephaly suggesting NF1, and dysmorphic facial features, short and webbed neck,[abstracts.eurospe.org]
The cardinal features of NF1 include neurofibromas, café-au-lait spots, axillary and inguinal freckling, eye abnormalities comprising Lisch nodules, optic glioma and osseous[medicaljournals.se]
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]
Turcot Syndrome
Both children had features of neurofibromatosis type 1 including atypical café au lait spots and axillary freckling without a family history consistent with neurofibromatosis[ncbi.nlm.nih.gov]
freckling 0000997 Basal cell carcinoma 0002671 Cafe-au-lait spot 0000957 Ependymoma 0002888 Glioblastoma multiforme 0012174 Hypermelanotic macule Hyperpigmented spots 0001034[rarediseases.info.nih.gov]
Percent of people who have these symptoms is not available through HPO Abnormality of abdomen morphology 0001438 Astrocytoma 0009592 Autosomal recessive inheritance 0000007 Axillary[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]
Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris, axillary/inguinal freckling, pulmonary valvular stenosis, relative macrocephaly[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]
Multiple small to large cafe-au-lait macules, more than six in number and axillary freckling were present in both of them. Palmar freckling was noticed in father.[ijdvl.com]
Piebaldism
Abstract Miminal diagnostic criteria for the diagnosis of neurofibromatosis 1 (NF1) includes six or more café-au-lait macules plus axillary freckling.[ncbi.nlm.nih.gov]
[…] and inguinal freckling.[ncbi.nlm.nih.gov]
We report the case of a 5-year-old boy who had the white forelock and leukoderma of piebaldism, but the presence of many café-au-lait macules and axillary and inguinal freckling[ncbi.nlm.nih.gov]