Symposium- Nails: Diagnostic clue to genodermatoses Nails-Part II Arun C. Inamadar, Aparna Palit Department of Dermatology, ABSTRACT Venereology and Leprosy, Sri B.M. Patil Medical College, Nails are cutaneous appendages mostly involved in mechanical functions. However, nails may Hospital and Research Center, BLDE University, Bijapur, reflect presence of various systemic disorders evidenced by alteration of their shape, size, Karnataka, India color or texture. Genodermatoses are multisystem disorders with cutaneous involvement. Many of the genodermatoses present with nail changes and some of these may be the Address for correspondence: clinical pointers to the diagnosis. Diagnostic clues to various genodermatoses derived from Dr. Arun C. Inamadar, nail findings have been discussed. Department of Dermatology, Venereology and Leprosy, Genodermatosis, nail patella syndrome, pachyonychia congenita, yellow nail SBMP Medical College, Key words: Hospital and Research syndrome Center, BLDE University, Bijapur ‑ 586 103, Karnataka, India. E-mail: [email protected] INTRODUCTION Nail involvement in genodermatoses may be categorized in to three groups for better understanding It is customary to consider nail as an ornamental body and diagnosis [Table 1]; part helpful in finer grip functions of hands and feet. 1. Genodermatoses with characteristic nail changes However, appendageal structures like nail and hair 2. Genodermatoses with significant nail involvement may be as good reflectors as skin for presence of many 3. Genodermatoses with nonspecific nail changes systemic disorders. Cosmetic appeal of well manicured nails is undeniable; at the same time their efficacy as a GENODERMATOSES WITH CHARACTERISTIC NAIL diagnostic tool is well known. CHANGES Genodermatoses are conglomeration of cutaneous and Few genodermatoses present with characteristic nail systemic signs and symptoms and some of these disorders changes which predominate the clinical picture. When present with nail involvement. Nails may be the primary encountered with such nail changes, these disorders site of affection in some genodermatoses whereas in merit the first diagnostic consideration. others it is merely part of a syndrome. In majority of the genodermatoses nail changes are nonspecific but in Pachyonychia congenita combination with other cutaneous and systemic features Thick, yellowish brown‑colored nails present at these may point to a probable diagnosis. birth or developed during neonatal period with or without natal teeth are pointers to the diagnosis of Access this article online pachyonychia congenita (PC). Dystrophy of all the Quick Response Code: Website: twenty nails is a feature common to all the three www.ijdvl.com variants of PC, but other features may be variable. DOI: Upward angulation of the distal free edge of the 10.4103/0378-6323.95441 thickened nail plate (progressive distal thickening) PMID: is a distinct feature[1] and helps to differentiate it ***** from other disorders with thick nails. Recurrent How to cite this article: Inamadar AC, Palit A. Nails: Diagnostic clue to genodermatoses. Indian J Dermatol Venereol Leprol 2012;78: 271-8. Received: August, 2011. Accepted: November, 2011. Source of Support: Nil. Conflict of Interest: None declared. Indian Journal of Dermatology, Venereology, and Leprology | May-June 2012 | Vol 78 | Issue 3 271 Inamadar and Palit Nails in genodermatoses Table 1: Some of the genodermatoses with nail of type 2 PC. Rarely, lusture‑less kinky scalp hair (pili involvement[1,10,17] torti) and straightly stood‑out eyebrow hairs are the [3] Categories Genodermatoses features of this type. Genodermatoses Pachyonychia – with congenita – Nail changes and palmoplantar keratoderma in PC characteristic Nail-Patella – may be subtle[4] and variable among family members. nail changes syndrome This should not bar the clinician to make a clinical Yellow nail syndrome diagnosis of PC. Even the nail dystrophy may appear Porphyrias Congenital erythropoietic late (childhood or adulthood) in type 3 PC (PC tarda). porphyria, erythropoietic protoporphyria, porphyria cutanea tarda Nail patella syndrome Neuro-cutaneous Tuberous sclerosis It is worth to examine the nails of a patient with syndromes complex, Osler-Weber- nephrotic syndrome and early onset knee joint Rendu syndrome, ataxia telangiectasia osteoarthritis resulting in pain and gait abnormality. Disorder of Darier’s disease Anonychia or nonprogressive micronychia (mostly keratinization involving thumb and index fingers) present since birth, Genodermatoses Disorder of Trichothiodystrophy, Mal de and triangular lunula with distal apex in the midline with significant keratinization Meleda, Scleroatrophy of are highly predictive of nail patella syndrome.[5] Nail nail involvement Huriez, Olmsted syndrome, Bazex’s syndrome hypoplasia is more marked on the ulnar sides of the Mechano-bullous EB simplex, Junctional EB, involved fingers. disorders Recessive DEB Poikilodermatous Kindler syndrome, disorders Dyskeratosis congenita Although less highlighted, absence of skin creases Congenital Congenital mucocutaneous on the dorsal aspects of distal interphalangeal joint immunodeficiency candidiasis is a more specific sign of this disorder; this finding Disorder of Incontinentia pigmenti pigmentation may be present in these patients even in absence of [5] Genodermatoses Ectodermal –– nail changes. Associated features are hypoplastic or with non-specific dysplasia aplastic patella (resulting in subluxation), hypoplasia nail changes Disorders of Cronkhite-Canada syndrome, of proximal radius and ulna (limitation of elbow pigmentation Peutz-Jeghers syndrome, Laugier-Hunziker syndrome, movement), posterior iliac horns and webbing of the LEOPARD syndrome digits.[3] Poikilodermatous Rothmund Thomson disorder syndrome Yellow nail syndrome Disorder of KID syndrome, other keratinization ichthyosis, and palmo- Upper and lower respiratory tract illnesses (sinusitis/ plantar keratoderma bronchitis/recurrent bilateral pleural effusion/ Neurocutaneous Neurofibromatosis type 1 bronchiectasis) and primary lymphedema (80%)[6] in disorders combination with thickened, yellow nails are the clues Metabolic Fucosidosis, Erythropoietic disorders protoporphyria, for clinical diagnosis of yellow nail syndrome. All the acrodermatitis enteropathica 20 nails are involved. Only nail changes (30%) or only Disorders with Progeria lymphedema (30%) may be the presenting feature.[6] premature aging The color of the nail plate is variable from pale yellow painful paronychia may be associated. Nail trimming to orange and often it is altered due to colonization becomes impossible because of thickening and fine by Pseudomonas aeruginosa (greenish black) or grip functions of the fingers are jeopardized. Candida sp.[1,7] History of very slow growth of the nails (<0.25 mm/week), longitudinal over‑curvature Focal, intensely painful palmoplantar keratoderma (hump‑like), obscured lunula and absence of cuticles develops during early childhood when the child starts are more specific findings in such cases.[1,7] There walking and other activities. Foamy white mucosal may be history of nonimmune fetal hydrops in other plaque simulating oral candidiasis is mostly present siblings.[8] in type 1 PC. Affected children may have hoarseness of voice and rarely laryngeal stridor.[2] Natal teeth and Porphyrias multiple steatocystomas are indicative of the diagnosis Photo‑onycholysis and marked koilonychia are the 272 Indian Journal of Dermatology, Venereology, and Leprology | May-June 2012 | Vol 78 | Issue 3 Inamadar and Palit Nails in genodermatoses characteristic features of various hereditary porphyrias multiple sites among several family members are the like congenital erythropoietic porphyria (CEP), other clues to the diagnosis.[11] Expanded fungiform erythropoietic protoporphyria (EPP) and porphyria papillae of tongue due to presence of single, much cutanea tarda (PCT).[2] dilated blood vessel in each of these (visible by capillary microscopy) is a diagnostic feature of this disorder.[11] Other associated features of this group of disorders are erythrodontia (red fluorescence on Wood’s lamp Disorder of keratinization examination) and mutilating scars (CEP); skin pain on ‘V’‑shaped notch on the free edge of the nail plate sun exposure, bullae on photo‑exposed parts, shallow, [Figure 2] along with alternate longitudinal red elliptical scars on face (EPP); and bullae, scarring and (erythronychia) and white (leukonychia) bands are hirsutism (PCT).[2] the distinct features of Darier’s disease. Splinter hemorrhages may be associated. Hyperkeratotic, Neuro-cutaneous syndromes greasy papules over seborrhoeic areas and cobblestone Garlic‑clove fibromas (Koenen tumor) are multiple, appearance of the hard palate are the main elongated, pink or flesh‑colored tumors with mucocutaneous features. hyperkeratotic tips, arising from beneath the proximal and lateral nail folds (periungual) producing Vesiculo-bullous disorder longitudinal midline depression on nail plate [Figure 1]. Longitudinal leukonychia is a diagnostic sign of Hailey‑ [12] Such lesions appearing at puberty, along with facial Hailey disease, and may be helpful to differentiate angiofibromas and hypopigmented ash‑leaf macules this disorder from immunobullous disorders. are characteristic of tuberous sclerosis complex (TSC). Frequency of these lesions in TSC varies from 15% to Some other genodermatoses may also share these nail 52%, occurring more commonly on toes.[9] Although changes and