Acquired hypertrichosis lanuginosa. A skin marker of internal malignancy

Wadskov, S; Bro-Jorgensen, A; Søndergaard, Jørgen

doi:10.1001/archderm.112.10.1442

Cited by 20 publications

(5 citation statements)

References 6 publications

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“…HLA associated with malignancy (HLA‐M) 1–4 is a rare paraneoplastic disorder characterized by the subtle and progressive development of multiple, long, thin, nonpigmented hairs (‘lanugo hairs’) distributed preferentially on the face, but also on the trunk, limbs or in the axillae. Burning glossitis, papillary hypertrophy of the tongue, or disturbances of taste or smell are frequently noted 5–8 .…”

Section: Reportmentioning

confidence: 99%

Hypertrichosis lanuginosa acquisita preceding extraskeletal Ewing's sarcoma

Pérez-Losada

Pujol

Domingo

et al. 2001

Clinical and Experimental Dermatology

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A 62-year-old woman with acquired hypertrichosis lanuginosa as a paraneoplastic presenting sign of an extraskeletal Ewing's sarcoma is described. Despite initial comprehensive screening to rule out an associated malignancy, a definitive diagnosis of sarcoma was established only 1 year after the onset of the cutaneous symptoms. To the best of our knowledge, this is the first report of hypertrichosis lanuginosa acquisita associated with a soft tissue sarcoma. Our observation expands the spectrum of malignancies associated with this uncommon paraneoplastic disorder.

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Section: Reportmentioning

confidence: 99%

Hypertrichosis lanuginosa acquisita preceding extraskeletal Ewing's sarcoma

Pérez-Losada

Pujol

Domingo

et al. 2001

Clinical and Experimental Dermatology

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“…The skin symptoms that are associated with it, such as acanthosis nigricans, conceivably reflect skin overgrowth caused by activation of EGF signalling. The occurrence of lanugo‐type hypertrichosis on body regions that a patient previously has perceived as ‘hairless’ should be interpreted as an important marker of an underlying malignancy, after ruling out the above‐mentioned other factors (hormones, drugs) that may be involved in HLA 19 . Although HLA may arise as a paraneoplastic manifestation in various cancers, it has predominantly been reported in lung and colorectal cancer (Table 1).…”

Section: Hypertrichosis Lanuginosa Acquisita As Paraneoplastic Manifementioning

confidence: 99%

“…In women, colorectal carcinoma is the most observed associated malignancy, followed by lung cancer and breast cancer. In men, lung cancer is the most frequently encountered malignancy, followed by colorectal carcinoma 4–56 . Hair growth may occur from 2·5 years before the tumour is identified up to 5 years after diagnosis.…”

Section: Hypertrichosis Lanuginosa Acquisita As Paraneoplastic Manifementioning

confidence: 99%

Paraneoplastic hypertrichosis lanuginosa acquisita: uncommon or overlooked?

Slee¹,

Waal²,

Leeuwen³

et al. 2007

Br J Dermatol

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Acquired hypertrichosis lanugo-type or hypertrichosis lanuginosa acquisita (HLA) is often associated with metabolic and endocrine disorders and use of certain drugs. The occurrence of HLA with malignancy was first noted in 1865, and it has since been described in 56 patients as a paraneoplastic syndrome both in women and in men. Sometimes HLA occurs concurrent with acanthosis nigricans, papillary hypertrophy of the tongue, and glossitis. The predominance of female cases is striking. Malignancy-associated HLA seems to occur especially in the age group 40-70 years. In women with HLA the most frequent malignancy is colorectal cancer, followed in order by lung cancer and breast cancer; in men lung cancer is the malignancy most frequently associated with HLA, followed by colorectal cancer. In 3 years we saw 10 patients with HLA, in whom the malignancy was usually metastasized. Only one patient had local disease; after removal of the primary tumour it took 2 years before the lanugo hair recurred. The aetiology of the syndrome is not clear: no specific hormonal or biochemical abnormalities have been identified as yet. The difference between hirsutism and lanugo-type hypertrichosis is discussed. It is stressed that the appearance of lanugo-type hypertrichosis in body areas previously perceived by patients as 'hairless' is highly indicative of internal malignancy.

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“…In most cases, the acquired form is related to anorexia nervosa, autoimmune diseases, cancer or adverse effects of drugs. 3 Over the years, several different types of HH have been reported, including Ambras type (HTC1; MIM 145701), 4 X-linked hypertrichosis (HTC2; OMIM 307150), 5 congenital generalized hypertrichosis terminalis (CGHT) with or without gingival hyperplasia (OMIM 135400HTC3) 6,7 and hypertrichosis universalis (HU; OMIM 145700). 8 HTC1 has been mapped to chromosome 8q22.…”

Section: Introductionmentioning

confidence: 99%

“…The disorder can be congenital or acquired later in the life. In most cases, the acquired form is related to anorexia nervosa, autoimmune diseases, cancer or adverse effects of drugs 3 …”

Section: Introductionmentioning

confidence: 99%

Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis

Raza

Ullah

Haider

et al. 2022

Clinical and Experimental Dermatology

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Summary Background Hereditary hypertrichosis (HH) is characterized by excessive hair growth on various body areas, which is independent of the individual's age. This rare hair disorder has been classified by its origin (genetic or acquired), age of onset, breadth of hair distribution (universal or localized) and the affected body areas. HH is often linked to several additional congenital abnormalities involving teeth, heart and bones. Human HH is associated with heterozygous genomic duplications and deletions in the chromosomal region 17q24.2–q24.3, containing genes such as ABCA5, ABCA6, ABCA10 and MAP2K6. Recently, a homozygous splice‐site variant in ABCA5 has been reported to cause autosomal recessive congenital generalized hypertrichosis terminalis (CGHT; OMIM 135400). Aim To investigate the clinical and genetic basis of autosomal recessive hypertrichosis in a large consanguineous Pakistani family. Methods In the present study, we characterized a family of Pakistani origin segregating CGHT in an autosomal recessive pattern, using whole exome sequencing followed by Sanger sequencing Results We identified a novel 2‐bp intragenic deletion [NM_172232.4(ABCA5);c.977_978delAT] causing a frameshift variant (p.His326ArgfsTer5) in ABCA5. Conclusions To our knowledge, this is the first intragenic deletion in ABCA5 underlying CGHT. The findings further validate the involvement of ABCA5 in hair development. The study will facilitate genetic counselling of families carrying CGHT‐related features in Pakistani and other populations.

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Acquired hypertrichosis lanuginosa. A skin marker of internal malignancy

Cited by 20 publications

References 6 publications

Hypertrichosis lanuginosa acquisita preceding extraskeletal Ewing's sarcoma

Hypertrichosis lanuginosa acquisita preceding extraskeletal Ewing's sarcoma

Paraneoplastic hypertrichosis lanuginosa acquisita: uncommon or overlooked?

Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis

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