Axillary Freckling: Causes & Reasons

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Possible Causes for Axillary Freckling

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]

Genet. 2007;39:1120-6) at the Catholic University of Leuven (Belgium), the hallmarks of Legius syndrome include multiple café au lait macules, axillary freckling, and autosomal [mdedge.com]

Herein, we describe a case of a 16-year-old male presenting with multiple CALMs and axillary freckling. [ijpd.in]

Neurofibromatosis

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 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]

Watson Syndrome

Look for distinctive skin lesions, such as axillary freckling, mottling, small spherical patches, and areas of depigmentation. [checkorphan.org]

TERME PRÉFÉRENTIEL Watson syndrome DÉFINITION(S) Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris, axillary/inguinal freckling [loterre.fr]

freckling 0000997 Lisch nodules 0009737 Multiple cafe-au-lait spots 0007565 Neurofibromas 0001067 Relative macrocephaly Relatively large head 0004482 Short stature Decreased [rarediseases.info.nih.gov]

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]

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, 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]

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]

Jaffe-Campanacci Syndrome

Abstract Background: Jaffe-Campanacci is a rare syndrome characterised by the association of café-au-lait spots, axillary freckles, multiple non-ossifying fibromas of the [mendeley.com]

Figure 1 Typical “coast-of-California” café-au-lait spots (a) and axillary freckles (b). [bmcmusculoskeletdisord.biomedcentral.com]

freckles, multiple non-ossifying fibromas of the long bones and jaw, and café-au-lait spots, associated with some features of neurofibromatosis type 1 (NF1). [x-mol.com]

Neurofibromatosis Type 2

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]

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]

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]

Neurofibromatosis Type 6

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]

Zosteriform Lentiginosis

Partial unilateral lentiginosis with ipsilateral lisch nodules and axillary freckling. [lireriha.web.app]

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]

freckling is often also present in these cases (see p. 874 ). [plasticsurgerykey.com]

17q11 Microdeletion Syndrome

[…] 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]

Acromelanosis

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]

Severe Idiopathic Pneumococcemia

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]

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]

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]

Congenital Pseudoarthrosis of the Tibia

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]

Pulsating Exophthalmos

Left axillary freckling was also present. On ocular examination, the patient could fix and follow with both eyes. [meajo.org]

Axillary and inguinal freckling (see Figures 1 and 2) Visual Acuity: OD—20/25; OS—No Light Perception (NLP). [webeye.ophth.uiowa.edu]

Three diagnostic criteria (cafι-au-lait spots, plexiform neurofibroma, and axillary freckles) were present in our case. [meajo.org]

Subungual Fibroma

 AXILLARY FRECKLING. 15. CAFÉ AU LAIT SPOTS. PIGMENTED MACULES(>1 CM) ON THE TRUNK. PLEMIFORM NEUROMA SEEN. 16. [slideshare.net]

Several larger (>1.0 cm) cafe-au-lait macules on the upper chest and multiple small macules in the axillae (axillary "freckling") 17. [slideshare.net]

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]

17q11 Microdeletion Syndrome

Odontomatosis - Aortae Esophagus Stenosis Syndrome

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]

Neurofibromatosis Type 3

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]

Familial Progressive Hyper- and Hypopigmentation

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]

Axillary freckling is common in neuro fibromatosis and is an aid to the diagnosis. Lisch nodules and iris hamartomas are present in most patients over the age of 6. [drmhijazy.com]

LEOPARD Syndrome

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 spot's, localized hypopigmentation, dermatoglyphic abnormalities, interdigital webs, onychodystrophy, multiple granular cell myoblastomas, hyperelasticity [wikidoc.org]

Dowling-Degos Disease Type 2

Crowe FW: Axillary freckling as a diagnostic aid in neurofibromatosis. Ann Intern Med 1964;61:1142–1143. [karger.com]

freckling (Crowe’s sign) is a major feature. [infectiousdiseaseadvisor.com]

Lentiginosis profusa perigenito-axillaris. Z Haut Geschlechtskr 1967;42:19–22. [karger.com]

X-linked myotubular myopathy-abnormal genitalia syndrome

freckling, localized hypopigmentation, interdigital webbing, hyperelastic skin) Mild mental retardation is observed in about 30% of those affected with the syndrome Nystagmus [en.wikipedia.org]

3 of the above conditions are present, with a first-degree relative (i.e. parent, child, sibling) with a clinical diagnosis. [ 6 ] additional dermatologic abnormalities (axillary [en.academic.ru]

3 of the above conditions are present, with a first-degree relative (i.e. parent, child, sibling) with a clinical diagnosis. [6] Additional dermatologic abnormalities (axillary [en.wikipedia.org]

Hereditary Pheochromocytoma-Paraganglioma

Neurofibromatosis, type 1 (see Chap. 108 ) NF1 5%-15% Cutaneous neurofibromas, plexiform neurofibromas, cafe-au-lait macules, axillary and inguinal freckling, Lisch nodules [mhmedical.com]

freckling, optic glioma, ≥2 iris hamartomas (Lisch nodules), osseous lesions. [em-consulte.com]

NF1 patients present with multiple neurofibromas, café-au-lait spots, axillary freckling, and Lisch nodules of the iris. [atlasgeneticsoncology.org]

Hereditary Neurocutaneous Angioma

Axillary freckling with large cafe-au-lait spots Giant cafe-au-lait spots NF1with Rt.optic glioma Plexiform neurofibroma with palmar freckling Neurofibromatosis-2 (NF-2): [thamburaj.com]

Axillary or inguinal freckles are rare at birth but appear throughout childhood and adolescence. [patient.info]

freckling. [neupsykey.com]

Stickler Syndrome Type 2

freckling -dysplastic tumore--cutaneous or subcutaneous; biopsy confirmation of neurofibroma (scoliosis is also a relatively common musculoskeletal findnig) -Hearing impairment [quizlet.com]

The phenotype associated with NFLS consists of multiple café-au-lait macules, axillary freckling, and macrocephaly. Some patients also have learning disabilities. [chginc.org]

[…] cause abnormal facial features and central nervous system problems Neurofibromatosis type 2 phenotype -cafe au lait spots: more than 5 spots greater than 1.5 cm in diameter -axillary [quizlet.com]