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Hypotrichosis 7(HYPT7)

MedGen UID:
322969
Concept ID:
C1836672
Disease or Syndrome
Synonyms: Alopecia Universalis Congenita, Mari type; HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 2; HYPT7; Total Hypotrichosis, Mari type
 
Gene (location): LIPH (3q27.2)
 
Monarch Initiative: MONDO:0011452
OMIM®: 604379

Definition

Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair.

Rarely, people with autosomal recessive hypotrichosis have skin problems affecting areas with sparse hair, such as redness (erythema), itchiness (pruritus), or missing patches of skin (erosions) on the scalp. In areas of poor hair growth, they may also develop bumps called hyperkeratotic follicular papules that develop around hair follicles, which are specialized structures in the skin where hair growth occurs. [from MedlinePlus Genetics]

Clinical features

From HPO
Abnormality of the dentition
MedGen UID:
78084
Concept ID:
C0262444
Finding
Any abnormality of the teeth.
Sparse eyebrow
MedGen UID:
371332
Concept ID:
C1832446
Finding
Decreased density/number of eyebrow hairs.
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Decreased number of hairs per unit area of skin of the scalp.
Abnormality of the skin
MedGen UID:
11449
Concept ID:
C0037268
Congenital Abnormality
An abnormality of the skin.
Comedo
MedGen UID:
67447
Concept ID:
C0221228
Disease or Syndrome
A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).
Abnormal sweat gland morphology
MedGen UID:
892310
Concept ID:
C0262643
Anatomical Abnormality
Any structural abnormality of the sweat gland.
Brittle hair
MedGen UID:
120480
Concept ID:
C0263490
Disease or Syndrome
Fragile, easily breakable hair, i.e., with reduced tensile strength.
Wooly hair
MedGen UID:
87469
Concept ID:
C0343073
Finding
The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.
Abnormality of the nail
MedGen UID:
163115
Concept ID:
C0853087
Anatomical Abnormality
Abnormality of the nail.
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Decreased density/number of eyelashes.
Sparse axillary hair
MedGen UID:
348975
Concept ID:
C1858574
Finding
Reduced number or density of axillary hair.
Sparse body hair
MedGen UID:
350775
Concept ID:
C1862863
Finding
Sparseness of the body hair.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.

Professional guidelines

PubMed

Rugo HS, Bianchini G, Cortes J, Henning JW, Untch M
ESMO Open 2022 Aug;7(4):100553. Epub 2022 Aug 11 doi: 10.1016/j.esmoop.2022.100553. PMID: 35964548Free PMC Article
Gupta AK, Venkataraman M, Talukder M, Bamimore MA
JAMA Dermatol 2022 Mar 1;158(3):266-274. doi: 10.1001/jamadermatol.2021.5743. PMID: 35107565Free PMC Article
Villani A, Fabbrocini G, Ocampo-Candiani J, Ruggiero A, Ocampo-Garza SS
J Eur Acad Dermatol Venereol 2021 Jul;35(7):1485-1492. Epub 2021 Mar 23 doi: 10.1111/jdv.17216. PMID: 33660357

Recent clinical studies

Etiology

Zernov NV, Skoblov MY, Marakhonov AV, Shimomura Y, Vasilyeva TA, Konovalov FA, Abrukova AV, Zinchenko RA
J Invest Dermatol 2016 Jun;136(6):1097-1105. Epub 2016 Feb 20 doi: 10.1016/j.jid.2016.01.037. PMID: 26902920

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