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.
[journals.lww.com]
Other features include axillary freckling, macrocephaly, Noonan-like facies, lipomas, learning disabilities and attention deficit-hyperactivity.
[medical-dictionary.thefreedictionary.com]
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]
Axillary freckling and inguinal freckling often develop during puberty.
[emedicine.com]
Areas of freckling and regions of hypertrichosis occasionally overlay plexiform neurofibromas. Axillary freckling is also known as the Crowe sign.
[emedicine.com]
freckling 31 HP:0000997 13 episodic hypertension 31 HP:0000875 Symptoms via clinical synopsis from OMIM: 56 Lab: proteinuria hypercalcemia elevated urinary norepinephrine
[malacards.org]
One of their probands had numerous cafe-au-lait spots up to 4 cm in diameter and axillary freckling. There was, however, no family history of von Recklinghausen disease.
[syndromefinder.ncchd.go.jp]
One of Carney's patients showed cafe-au-lait spots, measuring up to 4 cm in diameter, and axillary freckling.
[symptoma.com]
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]
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, and hyperpigmented spots.
[hindawi.com]
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]
Axillary and inguinal freckling occurred also in high frequency in our patient cohort.
[frontiersin.org]
CALs were presented in 91% (30 out of 33) of our patients and the frequency of axillary and inguinal freckling was 52% (17 out of 33 controls).
[frontiersin.org]
The typical clinical features of NF1 are the hyperpigmented skin macules, called as café-au-lait spots (CALs), freckling of the axillary and inguinal regions, the pathognomonic
[frontiersin.org]
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.
[typeset.io]
Smooth-bordered café-au-lait spots, axillary freckling, and multiple nonossifying fibromas are present without soft tissue neurofibromas.
[accesspediatrics.mhmedical.com]
Partial unilateral lentiginosis with ipsilateral lisch nodules and axillary freckling.
[lireriha.web.app]
Also, other cases of PUL, coexisting with ipsilateral Lisch nodules, axillary freckling, or skeletal alterations, seem to suggest that many cases of PUL represent a particular
[karger.com]
Partial unilateral lentiginosis with ipsilateral Lisch nodules and axillary freckling. Dermatology. 2004. 209(4):321-4. [Medline]. Liu X, Zhao Z, Xu Q, Cai L, Zhang J.
[emedicine.medscape.com]
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]
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]
NF1-like syndrome (Legius syndrome) Absence of neurofibromas or optic pathway glioma or other features of NF1 except for the presence of café au lait spots, axillary freckling
[online.epocrates.com]
Axillary freckling and inguinal freckling often develop during puberty.
[emedicine.com]
Axillary or inguinal freckles are rarely present at birth, but appear during childhood through adolescence.
[deepdyve.com]
Her 14-year-old brother had cafe au lait spots and axillary freckling at birth. He had Lisch nodules in the iris, but no cutaneous neurofibromas.
[nejm.org]
[…] or inguinal freckling a primary relative with NF1 with above criteria A mnemonic to help remember these features is CAFE SPOT.
[radiopaedia.org]
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]
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]
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]
[…] renal, skin Phenotypes Abnormal heart morphology; Abnormality of cardiovascular system morphology; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Axillary
[mousephenotype.org]
Clinical examination revealed café-au-lait spots, neurofibromas, plexiform neuromas, axillary and inguinal freckling.
[cags.org.ae]
freckling, and Lisch nodules.
[adc.bmj.com]
freckling NFM type 1 > 6 cafe au lait spots over 1.5 cm plus axillary freckling tend to have short stature has multiple skin manifestations cafe au lait spots commonly found
[brainscape.com]
[…] in normal individuals, but more than 6 > 1.5 cm is pathognomonic for neurofibromatosis often axillary freckling and increase in hyperpigmentation in the skin cutaneous and
[brainscape.com]
[…] regulation - classic systemic lupus is multisystem disorder - essentially can effect every organ system - discoid lupus only has dermatologic manifestations cafe au lait spot and axillary
[brainscape.com]
[…] or inguinal freckling ≥ 2 Lisch nodules Optic glioma Sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis First degree relative diagnosed with
[pathologyoutlines.com]
[…] are present: ≥ 6 café au lait patches > 0.5 cm in prepubertal individuals or > 1.5 cm in postpubertal individuals ≥ 2 neurofibromas of any type or 1 plexiform neurofibroma Axillary
[pathologyoutlines.com]
The child had multiple café au lait spots and axillary freckling and mother too had multiple neurofibromas and cafe au lait spots (TYPE 1 neurofibromatosis).
[sjkdt.org]
It is a well-known fact that neurofibromatosis is associated with various pigmented skin lesions like cafe au lait macules, axillary freckling, smooth muscle hamartomas, malignant
[annalsofian.org]
Patients who had axillary freckling, previous skin inflammation, and gray pigmentation of the lesions were excluded. Results.
[hindawi.com]
Exclusion Criteria Patients who had axillary freckling, previous skin inflammation, and gray pigmentation of lesions were excluded from the study. 3.
[hindawi.com]
The child had multiple cafe au lait spots and axillary freckling and mother too had multiple neurofibromas and cafe au lait spots (TYPE 1 neurofibromatosis).
[go.gale.com]
The child had multiple café au lait spots and axillary freckling and mother too had multiple neurofibromas and cafe au lait spots (TYPE 1 neurofibromatosis).
[sjkdt.org]
freckling, multiple café au lait macules plus dome-shaped, soft, multiple superficial neurofibromas, trunk and extremities; no eye abnormality; normal physical and mental
[ncbi.nlm.nih.gov]
[…] in the axillary regions, café au lait spots, piezogenic papules on the feet Multiple nodular neurofibromas, multiple plexiform neurofibromas, one of 2 cm in diameter on the
[ncbi.nlm.nih.gov]
Multiple nodular neurofibromas on the trunk, arms, and legs, plexiform neurofibromas in the pubic region and plantar region, blue-red pseudoatrophic macules on the trunk, freckles
[ncbi.nlm.nih.gov]
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]
There were also axillary frecklings. No neurofibromas were observed ( Figures 1 - 3 ). Figure 1: The family with pibaldism ( father and children).
[omicsonline.org]
[…] and inguinal freckling.
[ncbi.nlm.nih.gov]
The skin should be examined, looking for cutaneous abnormalities associated with NF1 (café-au lait spots, inguinal/axillary freckling, cutaneous/subcutaneous neurofibromas
[ncbi.nlm.nih.gov]
Axillary or inguinal freckles are rarely present at birth, but appear during childhood through adolescence.
[deepdyve.com]
freckling was noted bilaterally.
[ijem.in]
[…] or inguinal freckling- common after 3 years of age Xanthogranulomas (2-5%) Eye: Optic glioma (often present at birth; occurs in 10-15% of patients) Lisch nodules- pigmented
[en.wikibooks.org]
On clinical examination, the child was found to have multiple café-au-lait spots, axillary freckling, and right leg swelling [Figure 1].
[saudijhealthsci.org]
The back, abdomen and extremities revealed multiple flat, smooth bordered, brown skin lesions, and there was evidence of axillary freckling.
[practicalneurology.com]
It can be diagnosed on the basis of characteristic phenotypic manifestations, such as café-au-lait spots, axillary and inguinal freckling, neurofibromas, optic gliomas, Lisch
[e-aps.org]
freckling Epigastric pain Single ventricle Pseudoarthrosis Optic nerve glioma Embryonal rhabdomyosarcoma Subcutaneous neurofibromas Primitive neuroectodermal tumor Plexiform
[mendelian.co]
[…] myelogenous leukemia Fibular bowing Dural ectasia Lisch nodules Myocardial fibrosis Renovascular hypertension Neurofibrosarcoma Leiomyosarcoma Renal artery stenosis Ependymoma Axillary
[mendelian.co]
No generalized lentiginosis, axillary freckling, abnormal hairs and teeth were observed. The girl′s mother refused our request for biopsies of these lesions.
[ijdvl.com]
There were also axillary frecklings. No neurofibromas were observed ( Figures 1 - 3 ). Figure 1: The family with pibaldism ( father and children).
[omicsonline.org]
No generalized lentiginosis, axillary freckling, abnormal hairs and teeth were observed. The girl's mother refused our request for biopsies of these lesions.
[ijdvl.com]
freckling due to neurofibromatosis Bilirubin pigmentation of oral mucosa Breast depigmented Breast hypopigmented Buccal pigmentation due to Addison's disease Caf Caf Centrofacial
[emedcodes.com]
Synonym Freckles Pigment spot polyposis (Klostermann1956) periorificial lentiginosis Axillary freckling Crowes sign Albright-McCune-Sternberg syndrome McCune-Albright syndrome
[link.springer.com]
[…] etiology Acquired poikiloderma Acromelanosis Addisonian pigmentation of palms Amateur decorative tattoo of skin Arsenic-induced skin pigmentation Atrial myxoma with lentigines Axillary
[emedcodes.com]
The initial facial eruption supports the classification of Haber's disease as a separate entity from DDD. [12][13] Neurofibromatosis type 1 Exhibits axillary and inguinal
[statpearls.com]
freckling that mirrors the reticulated hyperpigmentation of DDD but becomes easily distinguishable from DDD with the development of multiple neurofibromas and other cutaneous
[statpearls.com]
[…] cafe-au-lait spots, Axillary freckling, Low-set ears, Posteriorly ro...
[mousephenotype.org]
ORPHA:79432 Palmoplantar Keratoderma And Congenital Alopecia 1 Palmoplantar keratoderma, Hyperpigmentation of the skin OMIM:104100 Watson Syndrome Inguinal freckling, Multiple
[mousephenotype.org]
We report a 9-year-old boy affected by LEOPARD syndrome, who also had ichthyosis, axillary freckling, two café au lait spots, and one neurofibroma.
[ncbi.nlm.nih.gov]
We report a 9-year-old boy affected by LEOPARD syndrome, who also had ichthyosis, axillary freckling, two cafe au lair spots, and one neurofibroma.
[moh-it.pure.elsevier.com]
freckling, café au lait spots, diffuse lentiginosis and growth retardation.
[ijdvl.com]
The initial facial eruption supports the classification of Haber's disease as a separate entity from DDD. [12][13] Neurofibromatosis type 1 Exhibits axillary and inguinal
[statpearls.com]
freckling that mirrors the reticulated hyperpigmentation of DDD but becomes easily distinguishable from DDD with the development of multiple neurofibromas and other cutaneous
[statpearls.com]
