“…Neurofibromatosis 1 (NF1) is a neurocutaneous syndrome characterized by multiple café-au-lait macules, cutaneous neurofibromas or plexiform neurofibromas, iris Lisch nodules, axillary and inguinal freckling. …”
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“…McCune - Albright syndrome is a genetic disease with cutaneous mosaicism caused by post-zygotic activating mutations in GNAS locus, it has a triad of fibrous bone dysplasia, café-au-lait macules and precocious puberty. We examined a 22-year-old female patient with café au lait spot in right side of the abdomen, with a chessboard - like distribution, extending to right thigh with geographical contours, she has also an ovarian cyst, scoliosis and truncal obesity. …”
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“…Linear and whorled nevoid hypermelanosis is a rare disorder of skin pigmentation characterized by swirls and whorls of hyperpigmented macules in a reticulate pattern along Blaschko’s lines. …”
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“…The association of concomitant thyroid dysfunction with depigmentation of the hands was found to be so strong that the absence of depigmented macules on the hands may exclude the coexistence of an autoimmune thyroid pathology. …”
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“…PV presents as numerous well‐ demarcated macules with a powdery scale. Prior epidemiologic studies have indicated that underrepresented groups defined by race experience a higher burden of PV as compared to White patients. …”
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“…CASE PRESENTATION: A 9 year-old boy presented to our clinic with Factor VII deficiency, microcephaly, a seizure disorder, multiple midline abnormalities (agenesis of the corpus callosum, imperforate anus, bilateral optic nerve hypoplasia), developmental delay, hypopigmented macules, short 5(th )fingers, and sleep apnea due to enlarged tonsils. …”
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“…The phenotype of LS is multiple café au lait macules (CALM) with other commonly reported manifestations, including intertriginous freckling, lipomas, macrocephaly, and learning disabilities including ADHD and developmental delays. …”
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“…Physical examination revealed the presence of café au lait macules, freckling in the axillary region and multiple neurofibromas over the trunk. …”
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“…The patient also had clinical features compatible with NF1 such as café au lait macules, axillary freckles, neurofibromas across the body, and Lisch nodules. …”
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“…She presented with facial erythema, fibroadenomas with malar distribution and disseminated hypomelanotic macules, meeting the criteria for TS. TSC2/PKD1 Contiguous Gene Syndrome deletion was suspected, being later confirmed by genetic testing.…”
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“…BACKGROUND: Vitiligo is a disease characterized by depigmented macules and patches that occur as a result of the loss of functional melanocytes from the affected skin through a mechanism which has not been elucidated yet. …”
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“…A 50-year-old male presented with scaly, violaceous plaques and dusky brown macules on whole body. For four months, the patient was treated with olmutinib, an oral, third-generation epidermal growth factor receptor-tyrosine kinase inhibitor. …”
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“…We report an atypical tuberous sclerosis complex (TSC) phenotype presenting as familial multiple renal cell carcinomas (RCCs) with (angio)leiomyomatous stroma (RCCLS) (5/7 familial RCCs) on a background of multiple angiomyolipomas, hypopigmented skin macules, and absence of neurological anomalies. In the index case and three relatives, germline genetic testing identified a heterozygous TSC2 missense pathogenic variant [c.2714 G > A, (p.Arg905Gln)], a rare TSC‐associated alteration which has previously been associated with a milder TSC phenotype. …”
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“…CASE PRESENTATION: A 50-year old mentally disabled white male with a history of epilepsy presented with fever and a painless red macule on his right arm which rapidly progressed to a painful ulcer. …”
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“…He presented with multiple non-itchy hyperpigmented macules on his face and back, polydactyly in his left foot, central obesity, proteinuria, macrocytic anemia, low intelligence quotient, reduced power in the left lower limb, reduced plantar reflexes, nystagmus, pigmented black lesions in the temporal retina on fundoscopy, a micropenis, absent pubic and axillary hair, and a small scrotum containing testes. …”
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“…Other associated features include vascular abnormalities such as Sturge-Weber syndrome, and klippel trenaunay syndrome (KTS), and cutaneous lesions such as nevus anemicus (most common), cafe’-au-lait macules, generalized vitiligo and congenital triangular alopecia (CTA). …”
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“…Other manifestations include joint contractures, hyperpigmented macules over bony prominences of the joints, and gingival hypertrophy. …”
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“…Approximately 90% of patients presented with café-au-lait macules, and 34% had skin-fold freckling. Moreover, 42% of the participants had a first-degree relative with neurofibromatosis type 1, and about a quarter presented with associated epilepsy. …”
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“…The lesions were non-tender, non-pruritic, and did not bleed when lightly scraped. A café-au-lait macule was incidentally found in the mid-back of the patient. …”
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“…The clinical examination of the skin is crucial because seven diagnostic criteria are dermatological: four major (hypomelanotic macules, angiofibroma or fibrous cephalic plaques, ungual fibromas, shagreen patches) and three minor criteria (confetti skin lesions, dental enamel pits, intraoral fibromas). …”
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