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Inflammatory poikiloderma with hair abnormalities and acral keratoses(IPHAK)

MedGen UID:
1824066
Concept ID:
C5774293
Disease or Syndrome
Synonym: IPHAK
 
Gene (location): LTV1 (6q24.2)
 
Monarch Initiative: MONDO:0859355
OMIM®: 620199

Definition

Inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK) is characterized by mottled hyper- and hypopigmentation of the skin as well as sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses (Han et al., 2022). [from OMIM]

Clinical features

From HPO
Absent eyebrow
MedGen UID:
98133
Concept ID:
C0431448
Congenital Abnormality
Absence of the eyebrow.
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.
Acrokeratosis
MedGen UID:
450988
Concept ID:
C0001202
Disease or Syndrome
Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.
Poikiloderma
MedGen UID:
97905
Concept ID:
C0392777
Disease or Syndrome
Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.
Mottled pigmentation
MedGen UID:
163653
Concept ID:
C0860439
Finding
Patchy and irregular skin pigmentation.
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Decreased density/number of eyelashes.
Pigment incontinence
MedGen UID:
482145
Concept ID:
C3280515
Finding
A process in which melanosomes (melanin granules) are deposited in the dermis. The dermal melanosomes are observed to be mainly in macrophages. This phenomenon of pigmentary incontinence usually follows an inflammatory process with the basic feature of basal cell damage, such as in lichen planus, lupus erythematosus, Riehl's melanosis, incontinentia pigmenti (Bloch-Sulzberger), and fixed drug eruption. Incontinence of pigment, or dropping off of epidermal melanin into the dermis, frequently produces a clinically recognizable and characteristic slate-gray pigmentation.

Recent clinical studies

Prognosis

Han JH, Ryan G, Guy A, Liu L, Quinodoz M, Helbling I, Lai-Cheong JE; Genomics England Research Consortium, Barwell J, Folcher M, McGrath JA, Moss C, Rivolta C
Hum Mol Genet 2022 Jun 22;31(12):1970-1978. doi: 10.1093/hmg/ddab368. PMID: 34999892Free PMC Article

Clinical prediction guides

Han JH, Ryan G, Guy A, Liu L, Quinodoz M, Helbling I, Lai-Cheong JE; Genomics England Research Consortium, Barwell J, Folcher M, McGrath JA, Moss C, Rivolta C
Hum Mol Genet 2022 Jun 22;31(12):1970-1978. doi: 10.1093/hmg/ddab368. PMID: 34999892Free PMC Article

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