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Skin-nontumor / Clinical Dermatology

Blistering disorders

Darier’s disease

Reviewer: Mowafak Hamodat, MB.CH.B, MSc., FRCPC (see Reviewers page)
Revised: 26 August 2011, last major update July 2011
Copyright: (c) 2002-2011, PathologyOutlines.com, Inc.

Description
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● Rare autosomal dominant genodermatoses with symmetric red-brown keratotic papules in seborrheic distribution, due to suprabasal dyskeratotic cells with large nuclei and a paranuclear halo

Terminology
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● Also called keratosis follicularis, Darier-White disease

Etiology
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● Usually due to mutation in ATP2A2 that encodes sarco/endoplasmic reticulum Ca(2+) ATPase isoform 2 (SERCA2) (Cell Mol Life Sci 2008;65:205)
● Hailey-Hailey disease is the only other known autosomal dominant Ca2+ ATPase disorder (J Invest Dermatol 2006;126:2370)

Clinical features
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● Uncommon
● Initial cutaneous findings usually develop after adolescence and before age 30; affects males and females equally
● Symmetrical distribution of red-brown keratotic papules, may be unilateral or localized, may be verrucoid if close together
● Greasy, malodorous papules and plaques on seborrheic areas and in flexures (trunk, axillae, neck)
● Punctate keratoses or pits on palms and soles
● Nails show subungual hyperkeratosis, fragility and splintering, with white and red alternating longitudinal bands and triangular nicking of the distal nail plate
● May involve oral mucosa

Case reports
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● 18 year old woman with long history of closely packed dark papules on her feet and legs (Case of Week #155)
● 55 year old man with linear form (Dermatol Online J 2008;14:11)

Treatment
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● Oral or topical retinoids, topical or systemic corticosteroids, possibly surgery (eMedicine)

Clinical images
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Various images

Keratotic papules

Micro description
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● Acantholytic dyskeratosis
● Suprabasal clefts contain dyskeratotic, basophilic cells with large nuclei and a paranuclear halo
● Called grains if present in stratum corneum and corps ronds if present in granular layer
● Also prominent irregular acanthosis and papillomatosis
● May have prominent upper dermis infiltrates of lymphocytes

Micro images
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Acantholytic dyskeratosis with loss of cohesion between keratinocytes (thin arrows) and abnormal premature keratinization of epidermal cells (thick arrow)

Suprabasal acantholysis with cleft formation; dyskeratotic cells with pyknotic nuclei, clear perinuclear halos and brightly eosinophilic cytoplasms (corp ronds) are noted in the upper malpighian layer and stratum corneum

Acantholysis, dyskeratosis and variable chronic inflammatory dermal infiltrate

Case of Week #155

Other images: #1; #2

Differential diagnosis
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● Warty dyskeratoma: isolated follicular lesion
● Hailey–Hailey disease: full thickness epidermal acantholysis, no extensive dyskeratosis
● Grover’s disease / transient acantholytic dermatosis: usually small, spanning only few rete; has spongiosis and changes mimicking more than one of the acantholytic dermatosis

End of Skin-nontumor / Clinical Dermatology > Blistering disorders > Darier’s disease

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