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	»	Diseases of the Hair and Nails
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		»	Monilethrix
		»	Trichorhinophalangeal Syndrome
		»	Uncombable Hair Syndrome
		»	Tricho-dento-osseous Syndrome
		»	Björnstad Syndrome
		»	Papular Atrichia
		»	Nail–Patella Syndrome
		»	Pachyonychia Congenita
	»	Disorders of Cornification
		»	Ichthyosis Vulgaris (IV)
		»	X-linked Ichthyosis (XLI)
		»	Lamellar Ichthyosis
		»	Congenital Ichthyosiform Erythroderma
		»	Ichthyosis Bullosa of Siemens
		»	Epidermolytic Hyperkeratosis
		»	Harlequin Ichthyosis
		»	Netherton Syndrome
		»	Sjögren–Larsson Syndrome
		»	CHILD Syndrome
		»	Conradi–Hünermann–Happle Syndrome
		»	Chondrodysplasia Punctata
		»	Rhizomelic Chondrodysplasia Punctata
		»	KID Syndrome
		»	Refsum Disease
		»	Darier Disease
	»	Other Conditions
		»	Palmoplantar Keratodermas
		»	Ectodermal Dysplasias
		»	Metabolic and Enzyme Deficiency Diseases
		»	Signs of Spinal Dysraphism
		»	Keratinopathies
»	References

Palmoplantar Keratodermas

(see Tables 2-6, 2-7)

Table 2-6 Diffuse Palmoplantar Keratodermas
	Disease	Type	Inh	Mutation	Clinical Appearance
	Non-epidermolytic PPK (Unna-Thost Syndrome)	Diffuse	AD	K1	PPK with erythematous border, hyperhidrosis, secondary tinea infections, pitted keratolysis, no transgrediens
	Epidermolytic PPK (Vörner Syndrome)	Epidermolytic	AD	K1 or K9 (most common)	Clinically similar to nonepidermolytic PPK but histology shows epidermolytic hyperkeratosis
	Mal de Meleda	Transgredient	AR	SLURP-1 gene (encodes protein: Secreted Ly-6/uPar related protein)	Transgredient PPK (hands, feet, elbows, knees), hyperhidrosis with malodor and secondary infections, perioral erythema, thickened nails
	Vohwinkel Syndrome, Classic (Keratoderma Hereditaria Mutilans)	Mutilating keratoderma + deafness	AD	GJB2 (encodes connexin 26)	Diffuse honeycomb-like PPK, pseudoainhum, starfishshaped keratoses of joints, sensorineural deafness, linear keratotic plaques of knees, scarring alopecia
	Vohwinkel Syndrome, Variant	Mutilating + ichthyosis	AD	Loricrin (cornified envelope protein)	Similar to classic Vohwinkel, but no deafness and more generalized ichthyosis
	Papillon–Lefèvre Syndrome	PPK + periodontitis	AR	Cathepsin C (lysosomal protease)	Periodontitis, early loss of teeth, transgredient erythematous PPK with psoriasiform lesions on extremities, calcification of falx/tentorium, hyperhidrosis
	Haim–Munk Syndrome	PPK + periodontitis + onychogryphosis	AR	Cathepsin C	Papillon–Lefevre syndrome + onychogryphosis, arachnodactyly, acroosteolysis
	Naxos Disease	PPK + woolly hair + cardiomyopathy	AR	Plakoglobin	Woolly hair, right ventricular cardiomyopathy with arrhythmias, PPK
	Carvajal Syndrome	PPK + woolly hair + cardiomyopathy	AR	Desmoplakin	Dilated cardiomyopathy, PPK in first year of life, woolly hair
	Olmsted Syndrome	Mutilating PPK + periorificial plaques	?	? (possible K5 and K14)	PPK (initially focal, then widespread) leading to flexion deformities, autoamputation, erythematous hyperkeratotic perioral plaques
	Non-epidermolytic PPK with deafness	PPK + sensorineural deafness	?	Connexin 26 or A7445G (mitochondrial)	PPK, progressive sensorineural deafness

Table 2-7 Focal Palmoplantar Keratodermas
	Disease	Inh	Mutation	Clinical Appearance
	Howel–Evans Syndrome	AD	TOC gene (tylosis-oesophageal carcinoma)	Focal PPK over pressure areas (balls of feet > hands), oral leukokeratosis, ↑ esophageal CA
	Richner–Hanhart Syndrome (Tyrosinemia Type II)	AR	Hepatic tyrosine amino-transferase (TAT)	Pseudoherpetic keratitis, dendritic corneal ulcers (tyrosine crystal deposition in eyes), painful focal PPK, progressive MR, treat with dietrestricted in tyrosine and phenylalanine
	Punctate PPK (Keratosis Punctata Palmaris Et Plantaris)	AD	?	Begins during or near adolescence, punctate keratoses on palms, can also occur in palmar creases of patients of African origin
	Acrokeratoelastoidosis	AD		Skin-colored papules involving hands and feet
	Striate PPK	AD	Desmoglein 1 and desmoplakin 1	Onset in teens/early adulthood, hyperkeratotic linear plaques on volar fingers, diffuse/focal plaques on proximal palms/soles
	Erythrokeratoderma Variabilis (Mendes da Costa)	AD	GJB3, GJB4 (connexin 30.3 and 31)	Erythematous migratory patches (may last minutes to days), fixed hyperkeratotic plaques, 50% with PPK, flexures spared
	Progressive Symmetric Erythrokeratoderma	AD	Likely loricrin mutation or connexin 31	Fixed hyperkeratotic erythematous plaques over joints/extremities, 50% with PPK